ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6146
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_000046.3(ARSB):c.-840_-839dup rs1255033691 0.98775
NM_002299.4(LCT):c.1084A>G (p.Ile362Val) rs4954449 0.97993
NM_000294.2(PHKG2):c.-114T>C rs11863277 0.97872
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) rs1769259 0.95944
NM_000046.4(ARSB):c.-302A>G rs163127 0.94480
NM_002300.8(LDHB):c.713+15A>G rs1650289 0.94113
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_000343.4(SLC5A1):c.*2257A>G rs5753868 0.92649
NM_012203.2(GRHPR):c.288-11C>T rs2736664 0.92549
NM_001041.4(SI):c.4569G>A (p.Met1523Ile) rs4855271 0.92178
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_000191.3(HMGCL):c.*486G>A rs11714 0.91585
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555 0.89165
NM_000507.4(FBP1):c.960A>G (p.Gly320=) rs1769257 0.88821
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_152419.3(HGSNAT):c.*1801T>C rs3739431 0.87926
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_000046.3(ARSB):c.-1178A>G rs163126 0.84841
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_003597.5(KLF11):c.*1558T>C rs4669522 0.82295
NM_001715.3(BLK):c.-46A>G rs2250788 0.82234
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_000151.4(G6PC1):c.*1294C>A rs161620 0.81032
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_003477.3(PDHX):c.*644C>A rs7808 0.80809
NM_000458.4(HNF1B):c.*100= rs1555818000 0.80645
NM_001164277.2(SLC37A4):c.-420G>C rs2846281 0.80326
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756 0.79829
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_002299.4(LCT):c.*50G>C rs1042712 0.78588
NM_015957.4(APIP):c.-70T>C rs2956112 0.78475
NM_021957.4(GYS2):c.1169+12A>T rs4639981 0.76485
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_021957.4(GYS2):c.1229+11G>A rs1871137 0.75356
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_001366110.1(PAX4):c.*521C>T rs712699 0.74699
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74681
NM_000030.3(AGXT):c.*289A>C rs4344931 0.74589
NM_001366110.1(PAX4):c.*211A>G rs712700 0.74585
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180 0.74398
NM_000151.4(G6PC1):c.*2095T>A rs692180 0.74089
NM_000151.4(G6PC1):c.*23T>C rs2229611 0.73413
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_000213.5(ITGB4):c.*25C>T rs9367 0.71419
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_002299.4(LCT):c.4606C>T (p.Leu1536=) rs2304371 0.69539
NM_000151.4(G6PC1):c.*2088A>T rs9902963 0.69330
NM_017755.6(NSUN2):c.1602-11G>T rs2303707 0.68523
NM_002500.5(NEUROD1):c.-73G>A rs2583016 0.68252
NM_000199.5(SGSH):c.*848C>G rs709677 0.67025
NM_000199.5(SGSH):c.*840A>G rs709678 0.66962
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434 0.66103
NM_003051.4(SLC16A1):c.*1414C>T rs7169 0.66095
NM_001008216.2(GALE):c.873+13G>A rs760941 0.65959
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000308.4(CTSA):c.1088+10C>T rs4608591 0.65654
NM_000308.4(CTSA):c.948+7G>A rs2075961 0.65493
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_003477.3(PDHX):c.*486G>T rs9326 0.64744
NM_005566.4(LDHA):c.483C>T (p.Ser161=) rs4687 0.64502
NM_005566.4(LDHA):c.519A>G (p.Leu173=) rs4820 0.64482
NM_005566.4(LDHA):c.*639T>C rs3758682 0.64017
NM_002076.4(GNS):c.*380C>T rs674 0.63058
NM_002294.3(LAMP2):c.*4579A>G rs42885 0.62750
NM_000262.3(NAGA):c.*1929C>T rs5758566 0.62119
NM_000642.3(AGL):c.*732C>T rs3766600 0.61998
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443 0.61836
NM_000262.3(NAGA):c.-208G>C rs133375 0.61550
NM_002299.4(LCT):c.5568T>C (p.Ala1856=) rs2278544 0.60314
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser) rs2322659 0.59219
NM_003477.2(PDHX):c.-88C>A rs2956110 0.59089
NM_000343.4(SLC5A1):c.*706C>T rs1056444 0.58787
NM_000458.4(HNF1B):c.*444= rs2688 0.58526
NM_001041.4(SI):c.1797G>T (p.Ala599=) rs9838509 0.58296
NM_001041.4(SI):c.1437C>T (p.Asn479=) rs9290257 0.57954
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_001041.4(SI):c.1146+13A>C rs9290259 0.57783
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_001041.4(SI):c.691A>G (p.Thr231Ala) rs9283633 0.56659
NM_005908.4(MANBA):c.*384C>T rs4019 0.55353
NM_005908.4(MANBA):c.*401G>A rs4013 0.55336
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_005908.4(MANBA):c.*124T>C rs3194585 0.55297
NM_005908.4(MANBA):c.*161C>T rs1054029 0.55296
NM_003597.5(KLF11):c.*1853T>C rs7632 0.55083
NM_005908.4(MANBA):c.*505G>A rs1054037 0.54146
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_000046.5(ARSB):c.*1302G>T rs754566 0.53627
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) rs13119545 0.53595
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_002076.4(GNS):c.*2361C>G rs1061743 0.52503
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_002299.4(LCT):c.1419C>A (p.Gly473=) rs6719488 0.51566
NM_000507.4(FBP1):c.*21C>T rs9695 0.51483
NM_002299.4(LCT):c.582C>T (p.Thr194=) rs2236783 0.51423
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000507.4(FBP1):c.705+14C>T rs2297084 0.51109
NM_002076.4(GNS):c.*1353G>A rs1269548 0.51078
NM_000642.3(AGL):c.2001+8T>C rs3736296 0.51012
NM_006488.3(KHK):c.-469A>C rs6742004 0.50895
NM_001164277.1(SLC37A4):c.-755T>A rs1784559 0.50768
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_000027.4(AGA):c.*183A>C rs1061814 0.50675
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_000199.5(SGSH):c.*855T>C rs1046832 0.48983
NM_000158.4(GBE1):c.-28G>T rs368460254 0.48974
NM_017950.4(CCDC40):c.*149T>C rs2304852 0.48973
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_005566.4(LDHA):c.*720C>G rs3758683 0.48049
NM_005566.4(LDHA):c.*622A>G rs3758681 0.47986
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000642.3(AGL):c.*1028C>T rs3766601 0.47451
NM_000199.5(SGSH):c.*315C>T rs2071148 0.47300
NM_000343.4(SLC5A1):c.1129+7T>G rs5998233 0.47147
NM_021957.4(GYS2):c.*152C>T rs936 0.46898
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000035.4(ALDOB):c.*1151A>G rs491979 0.46095
NM_053013.4(ENO3):c.-3+3C>T rs366577 0.45968
NM_080749.4(NEURL2):c.-13C>T rs2868362 0.45384
NM_002591.4(PCK1):c.*120T>G rs1042531 0.45356
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_001164277.2(SLC37A4):c.-516G>A rs3759012 0.44121
NM_000046.5(ARSB):c.*2022T>G rs7704939 0.43898
NM_002591.4(PCK1):c.69A>G (p.Leu23=) rs1042521 0.43803
NM_000525.4(KCNJ11):c.*441T>C rs2285676 0.43747
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_001715.3(BLK):c.*176C>T rs1042689 0.42891
NM_002591.4(PCK1):c.489A>G (p.Ser163=) rs1062601 0.42887
NM_002591.4(PCK1):c.462A>G (p.Ser154=) rs1042523 0.42809
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000035.4(ALDOB):c.*69C>T rs4577 0.41145
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056 0.40694
NM_138413.4(HOGA1):c.*445A>G rs1812286 0.40584
NM_138413.4(HOGA1):c.*711G>A rs11189295 0.40516
NM_138413.4(HOGA1):c.*498G>A rs2018017 0.40451
NM_000642.3(AGL):c.*1541T>C rs3766603 0.40438
NM_138413.4(HOGA1):c.*355C>T rs1977642 0.40312
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_002591.4(PCK1):c.453G>A (p.Ser151=) rs1062600 0.39601
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_012434.5(SLC17A5):c.*971G>A rs670248 0.38715
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_000262.3(NAGA):c.*1333T>C rs1063392 0.38250
NM_017950.4(CCDC40):c.*186A>C rs2304851 0.38175
NM_000458.4(HNF1B):c.*274= rs2689 0.38166
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669 0.37872
NM_000642.3(AGL):c.*1296A>C rs1804809 0.37745
NM_006488.3(KHK):c.145G>A (p.Val49Ile) rs2304681 0.36761
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_003477.2(PDHX):c.-272G>A rs2956111 0.36407
NM_000158.4(GBE1):c.*176G>A rs846 0.35837
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=) rs56407805 0.35335
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_020897.3(HCN3):c.*1069C>T rs8847 0.35054
NM_000298.6(PKLR):c.*267C>T rs932972 0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=) rs1052176 0.35034
NM_001715.3(BLK):c.*428G>A rs1042701 0.34826
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_015957.4(APIP):c.19C>T (p.Arg7Trp) rs2956114 0.34353
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_000162.5(GCK):c.*759del rs55714218 0.33944
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_000411.7(HLCS):c.-480-12A>G rs115866403 0.33322
NM_000512.5(GALNS):c.*367T>C rs1141390 0.33207
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_006488.3(KHK):c.*767C>T rs1131375 0.32419
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000642.3(AGL):c.*272G>T rs1804808 0.31955
NM_000507.4(FBP1):c.426+7C>T rs8192689 0.31642
NM_003051.4(SLC16A1):c.*1942T>C rs9429505 0.31556
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_001715.3(BLK):c.-190C>T rs922483 0.31162
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_000507.4(FBP1):c.651C>T (p.Ala217=) rs1042144 0.30883
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_021957.4(GYS2):c.*6A>T rs10431213 0.30676
NM_022895.3(C12orf43):c.*2523C>T rs1169310 0.30485
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_022895.3(C12orf43):c.*2764C>A rs1169309 0.30438
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_001366110.1(PAX4):c.*477C>T rs327520 0.29767
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464 0.28606
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_002294.3(LAMP2):c.*5038A>G rs2748 0.28585
NM_000046.5(ARSB):c.*1257A>C rs754567 0.28549
NM_001164277.2(SLC37A4):c.*125G>C rs8301 0.28518
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_002591.4(PCK1):c.*361G>A rs878859807 0.28332
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.27120
NM_000458.4(HNF1B):c.*99C>A rs2229295 0.27047
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_138413.4(HOGA1):c.*313A>C rs933057 0.26438
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
NM_000512.5(GALNS):c.*611A>G rs1135364 0.26293
NM_001041.4(SI):c.43G>T (p.Val15Phe) rs9290264 0.26247
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196 0.26206
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=) rs2259820 0.26141
NM_012434.5(SLC17A5):c.*385C>G rs3734518 0.26106
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_000411.7(HLCS):c.-466A>G rs117138955 0.25759
NM_000411.7(HLCS):c.-471A>G rs118091633 0.25745
NM_001041.4(SI):c.*68T>C rs73018867 0.25607
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_175914.5(HNF4A):c.*1132C>T rs6130615 0.24797
NM_000512.5(GALNS):c.*36G>A rs11076715 0.23846
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000512.5(GALNS):c.*652A>G rs1135366 0.23189
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000284.4(PDHA1):c.*1394C>T rs55856360 0.22991
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_000340.2(SLC2A2):c.496+8A>T rs5402 0.22868
NM_000284.4(PDHA1):c.*1059G>A rs15816 0.22867
NM_000284.4(PDHA1):c.*844A>G rs1042453 0.22833
NM_000284.4(PDHA1):c.*728C>T rs1042452 0.22767
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_000152.5(GAA):c.*223C>T rs8132 0.22255
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_000458.4(HNF1B):c.*924C>G rs10962 0.22156
NM_144563.3(RPIA):c.*531T>G rs6974 0.22151
NM_000343.4(SLC5A1):c.*1804T>C rs17683807 0.22133
NM_003477.2(PDHX):c.-129C>T rs112032820 0.22090
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_000404.4(GLB1):c.*354T>C rs12167 0.21789
NM_000512.5(GALNS):c.*701C>G rs77936719 0.21621
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_000340.2(SLC2A2):c.776-15C>T rs5406 0.21500
NM_000340.2(SLC2A2):c.*1222T>A rs55989805 0.21407
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) rs15669 0.21064
NM_002076.4(GNS):c.*269C>T rs2279597 0.21062
NM_000284.4(PDHA1):c.*1377G>A rs56039350 0.20892
NM_005609.3(PYGM):c.-381T>C rs483962 0.20383
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000340.2(SLC2A2):c.*1257C>T rs55679742 0.20048
NM_002863.4(PYGL):c.-127A>G rs67490748 0.20002
NM_000152.5(GAA):c.*419G>T rs7567 0.19631
NM_003477.2(PDHX):c.-202A>G rs113073242 0.19613
NM_015957.4(APIP):c.57+77C>T rs16926448 0.19609
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307 0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306 0.19588
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_001164277.2(SLC37A4):c.*418T>C rs11006 0.18616
NM_003477.2(PDHX):c.-124G>C rs375130125 0.18392
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000458.4(HNF1B):c.*384A>G rs1058166 0.17933
NM_002863.5(PYGL):c.*7G>C rs1042266 0.17763
NM_002591.4(PCK1):c.282C>T (p.Ile94=) rs6070157 0.17400
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000046.3(ARSB):c.-564A>G rs59558132 0.16591
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) rs2075643 0.16448
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_000046.3(ARSB):c.-958A>G rs57586329 0.15967
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NM_000213.5(ITGB4):c.5054-15A>G rs8078247 0.15459
NM_002299.4(LCT):c.4329C>T (p.Gly1443=) rs3739022 0.15421
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_002591.4(PCK1):c.826G>A (p.Glu276Lys) rs11552145 0.14626
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_001042351.2(G6PD):c.-111A>G rs111827785 0.14433
NM_000343.4(SLC5A1):c.*2245C>T rs9621386 0.14372
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_000046.3(ARSB):c.-906C>G rs62377914 0.14171
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_175914.5(HNF4A):c.*392T>G rs11086926 0.13032
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_000152.5(GAA):c.*91G>A rs2229221 0.12196
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_022895.3(C12orf43):c.*1693C>T rs41279096 0.11781
NM_175914.5(HNF4A):c.*2366G>C rs3212211 0.11643
NM_000147.4(FUCA1):c.-12T>C rs2070954 0.11405
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_017755.6(NSUN2):c.*99G>A rs3776448 0.11157
NM_003619.4(PRSS12):c.*1504G>A rs1045817 0.11039
NM_000152.5(GAA):c.*139dup rs865903736 0.10981
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931 0.10897
NM_000507.4(FBP1):c.-194C>T rs2296707 0.10821
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_000147.4(FUCA1):c.-86T>G rs2070953 0.10497
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_002294.3(LAMP2):c.*1314T>C rs5957381 0.09876
NM_000046.5(ARSB):c.*3181T>G rs11750774 0.09828
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_002294.3(LAMP2):c.*297A>C rs8160 0.09815
NM_002294.3(LAMP2):c.*3248G>A rs5957380 0.09812
NM_001159287.1(TPI1):c.69A>G (p.Arg23=) rs1800200 0.09809
NM_002294.3(LAMP2):c.*4671C>T rs1045953 0.09801
NM_002103.5(GYS1):c.-182T>G rs2287755 0.09792
NM_002294.3(LAMP2):c.*486A>G rs5957383 0.09784
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) rs946616 0.09756
NM_002294.3(LAMP2):c.*2395A>G rs10127185 0.09686
NM_002294.3(LAMP2):c.*2261A>G rs12395643 0.09416
NM_002591.4(PCK1):c.799A>G (p.Ile267Val) rs8192708 0.09315
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000365.6(TPI1):c.*420T>C rs58194764 0.08694
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_198586.3(NHLRC1):c.*621T>A rs10949481 0.08640
NM_002294.3(LAMP2):c.*2460A>G rs10127182 0.08629
NM_002294.3(LAMP2):c.*2195T>C rs13441024 0.08473
NM_003597.5(KLF11):c.*544C>A rs4444493 0.08457
NM_002591.4(PCK1):c.*431T>C rs28359554 0.08366
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_003597.5(KLF11):c.*435A>T rs72786612 0.07883
NM_000199.5(SGSH):c.*833A>G rs2012452 0.07846
NM_000035.4(ALDOB):c.*505C>A rs17772845 0.07844
NM_000035.4(ALDOB):c.*897G>A rs17772839 0.07843
NM_000035.4(ALDOB):c.*552T>A rs41308902 0.07841
NM_000035.4(ALDOB):c.*612A>G rs41296049 0.07833
NM_001366110.1(PAX4):c.*402T>C rs327519 0.07655
NM_002103.5(GYS1):c.-125C>T rs2287754 0.07560
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_000035.4(ALDOB):c.*206C>A rs17772869 0.07315
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_002863.5(PYGL):c.153C>T (p.Asp51=) rs77316189 0.07133
NM_000891.3(KCNJ2):c.*624G>A rs9302915 0.07098
NM_000046.3(ARSB):c.*3195A>G rs16875887 0.07068
NM_198586.3(NHLRC1):c.*336G>A rs10949482 0.06918
NM_000485.2(APRT):c.-50C>A rs8191469 0.06915
NM_000891.3(KCNJ2):c.*558C>T rs9302914 0.06842
NM_002294.3(LAMP2):c.*1096T>C rs5957382 0.06824
NM_000891.3(KCNJ2):c.*136G>A rs73998781 0.06798
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000891.3(KCNJ2):c.*1198A>G rs9895478 0.06787
NM_000891.3(KCNJ2):c.*1251C>T rs9894661 0.06785
NM_000891.3(KCNJ2):c.*1266C>T rs9894677 0.06783
NM_033159.4(HYAL1):c.*492C>T rs1283 0.06762
NM_000891.3(KCNJ2):c.*832G>A rs10083831 0.06743
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_000046.5(ARSB):c.*1469C>T rs55710452 0.06599
NM_003619.4(PRSS12):c.*807G>A rs17516164 0.06563
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_002076.4(GNS):c.*942A>G rs12309081 0.06453
NM_002076.4(GNS):c.*411G>A rs11175525 0.06452
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_000152.5(GAA):c.1754+12G>A rs2304840 0.06396
NM_000284.4(PDHA1):c.*614G>T rs5955761 0.06313
NM_006488.3(KHK):c.-449T>G rs116028777 0.06231
NM_006488.3(KHK):c.-444C>A rs116365550 0.06226
NM_006488.3(KHK):c.210-328A>G rs74537742 0.06212
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000158.4(GBE1):c.*152C>A rs9820089 0.06146
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_198586.3(NHLRC1):c.*626C>T rs10949480 0.06100
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_000925.3(PDHB):c.*407_*408delAA rs35161513 0.06029
NM_000284.4(PDHA1):c.*1598G>C rs11094770 0.06012
NM_022895.3(C12orf43):c.*2358C>T rs11065390 0.05950
NM_001041.4(SI):c.4842-4C>T rs78032315 0.05892
NM_000262.3(NAGA):c.*1035G>A rs62238588 0.05880
NM_000262.3(NAGA):c.957+4C>G rs55715427 0.05864
NM_000485.3(APRT):c.*3A>G rs2070256 0.05786
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_001041.4(SI):c.4779T>C (p.Phe1593=) rs78428100 0.05635
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_000308.4(CTSA):c.219C>G (p.Pro73=) rs742035 0.05580
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_012434.5(SLC17A5):c.*193A>G rs3734517 0.05453
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307 0.05399
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_000035.4(ALDOB):c.*122G>A rs41310087 0.05383
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser) rs9917722 0.05238
NM_001041.4(SI):c.5197+8C>T rs6799858 0.05235
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754 0.05209
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_003477.3(PDHX):c.*173G>A rs75863418 0.05112
NM_003477.3(PDHX):c.*200T>C rs16926653 0.05109
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941 0.05105
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_003477.3(PDHX):c.241+3G>A rs78878052 0.04995
NM_003477.3(PDHX):c.*890T>C rs1049333 0.04989
NM_006516.4(SLC2A1):c.*1213G>T rs55728431 0.04893
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_001041.4(SI):c.*426G>A rs111300332 0.04763
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln) rs33954001 0.04760
NM_153281.2(HYAL1):c.-132G>A rs12488302 0.04741
NM_002076.4(GNS):c.*3068_*3069dup rs397946778 0.04705
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_001352514.2(HLCS):c.*521C>T rs9967991 0.04663
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_152419.3(HGSNAT):c.*1216G>A rs73569597 0.04598
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=) rs17683448 0.04560
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=) rs33954397 0.04560
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr) rs17683430 0.04557
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser) rs17683011 0.04555
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=) rs17683704 0.04554
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_152419.3(HGSNAT):c.*1780C>T rs1058608 0.04517
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000199.5(SGSH):c.746-4A>G rs7218267 0.04487
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=) rs34123220 0.04470
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_005908.4(MANBA):c.*356G>A rs7672268 0.04355
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_002591.4(PCK1):c.873C>T (p.Thr291=) rs28359547 0.04342
NM_000507.4(FBP1):c.276G>T (p.Thr92=) rs16910744 0.04339
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_002076.4(GNS):c.*1990A>G rs17100600 0.04306
NM_002076.4(GNS):c.*566A>G rs17100604 0.04303
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=) rs33943816 0.04197
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_175914.5(HNF4A):c.*305A>G rs56343153 0.04078
NM_175914.5(HNF4A):c.*242T>C rs41282030 0.04068
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_006488.3(KHK):c.*580T>C rs7573066 0.03950
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385 0.03914
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000151.4(G6PC1):c.*877T>C rs72826982 0.03829
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_000891.3(KCNJ2):c.*2753T>C rs1391769255 0.03695
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03695
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000046.5(ARSB):c.*60G>A rs2173012 0.03683
NM_006488.3(KHK):c.-324C>T rs114973335 0.03642
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
NM_000891.3(KCNJ2):c.*2759T>C rs906331617 0.03578
NM_012203.2(GRHPR):c.*146A>G rs1057507 0.03576
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_002300.8(LDHB):c.-81G>C rs74069329 0.03540
NM_000434.4(NEU1):c.-40T>G rs41267082 0.03529
NM_152419.3(HGSNAT):c.*1231G>A rs61743005 0.03511
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_138413.4(HOGA1):c.*360C>T rs114372258 0.03441
NM_002294.3(LAMP2):c.*1071G>T rs2285548 0.03391
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_001366110.1(PAX4):c.*492G>A rs405576 0.03297
NM_000046.5(ARSB):c.*202A>G rs73770019 0.03289
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_002294.3(LAMP2):c.*1589A>G rs73612906 0.03180
NM_001323543.1(GALNS):c.-523T>C rs116702472 0.03132
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_000262.3(NAGA):c.*143C>T rs17002832 0.03106
NM_005908.4(MANBA):c.*317A>G rs78514870 0.03053
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964 0.02943
NM_000458.4(HNF1B):c.*777G>A rs17138512 0.02929
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_000458.4(HNF1B):c.*47T>G rs8068014 0.02908
NM_003597.5(KLF11):c.*1781T>C rs6722205 0.02856
NM_000262.3(NAGA):c.*1814C>T rs80313011 0.02824
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_002591.4(PCK1):c.1102G>A (p.Val368Ile) rs1804160 0.02728
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_002591.4(PCK1):c.705C>T (p.Tyr235=) rs28359544 0.02719
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) rs138066694 0.02710
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_000340.2(SLC2A2):c.*234C>A rs79424762 0.02686
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_000343.4(SLC5A1):c.*902T>G rs16989883 0.02647
NM_003477.3(PDHX):c.641+4T>C rs2767035 0.02645
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038 0.02548
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985 0.02543
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000262.3(NAGA):c.*12A>C rs2229547 0.02530
NM_000151.4(G6PC1):c.*727T>C rs80193931 0.02511
NM_138413.4(HOGA1):c.-279G>A rs41309988 0.02511
NM_002294.3(LAMP2):c.*205C>T rs41300191 0.02502
NM_152419.3(HGSNAT):c.*585T>C rs73675470 0.02497
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_000152.5(GAA):c.-178G>A rs77514632 0.02487
NM_000046.4(ARSB):c.-265G>A rs72764913 0.02482
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02463
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser) rs61756062 0.02444
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_000152.5(GAA):c.-338C>G rs144639114 0.02435
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643 0.02415
NM_000181.4(GUSB):c.*172A>G rs77293332 0.02406
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_017950.4(CCDC40):c.*654A>C rs2289538 0.02366
NM_000891.3(KCNJ2):c.*1596A>C rs117409545 0.02347
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416 0.02292
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp) rs181415619 0.02251
NM_000891.3(KCNJ2):c.*2754T>C rs9915769 0.02225
NM_175914.5(HNF4A):c.*700T>C rs114764820 0.02223
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_006488.3(KHK):c.*754T>C rs73921452 0.02190
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02153
NM_000030.2(AGXT):c.-46G>A rs73106672 0.02150
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002 0.02117
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_006488.3(KHK):c.*806G>A rs113859516 0.02073
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_021957.4(GYS2):c.1965G>C (p.Gln655His) rs117639846 0.02061
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_175914.5(HNF4A):c.*1832G>A rs4812832 0.02019
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_016219.5(MAN1B1):c.*157C>G rs61545361 0.02001
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_053013.3(ENO3):c.-88G>A rs73343373 0.01987
NM_001041.4(SI):c.4841+9A>G rs114438312 0.01984
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473 0.01977
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_002300.8(LDHB):c.879A>G (p.Pro293=) rs4828 0.01958
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_001352514.2(HLCS):c.*1484A>G rs78926199 0.01946
NM_001352514.2(HLCS):c.*547C>T rs116526486 0.01940
NM_006755.2(TALDO1):c.*9T>C rs7939103 0.01931
NM_006755.1(TALDO1):c.*192G>A rs7933290 0.01926
NM_000485.3(APRT):c.*47T>C rs8191497 0.01906
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993 0.01823
NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala) rs61741237 0.01800
NM_002294.3(LAMP2):c.*2524T>C rs150119198 0.01799
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_017950.4(CCDC40):c.*265C>T rs74000393 0.01774
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_001008216.2(GALE):c.709+14C>G rs6692104 0.01759
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_003477.3(PDHX):c.*123A>G rs59918794 0.01748
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_002076.4(GNS):c.*1456C>T rs144199387 0.01725
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_001041.4(SI):c.483+4C>T rs13086543 0.01717
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_175914.5(HNF4A):c.*2533G>A rs76705771 0.01679
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_002076.4(GNS):c.459+14T>C rs78614637 0.01673
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_017755.6(NSUN2):c.537+9T>C rs116785933 0.01651
NM_003619.4(PRSS12):c.*672C>T rs72919299 0.01650
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_053013.4(ENO3):c.1235+3A>G rs73973669 0.01622
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_006516.2(SLC2A1):c.-424C>G rs867977523 0.01606
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_000262.3(NAGA):c.*1930G>A rs144373253 0.01599
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_000308.4(CTSA):c.1353G>A (p.Thr451=) rs25649 0.01568
NM_012434.5(SLC17A5):c.*909C>T rs142349844 0.01560
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01529
NM_002294.3(LAMP2):c.*4562A>G rs142200759 0.01528
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_198586.3(NHLRC1):c.*237T>C rs73379118 0.01527
NM_198586.3(NHLRC1):c.*85T>A rs73379121 0.01526
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_002294.3(LAMP2):c.*1617C>T rs141881232 0.01521
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199 0.01511
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000308.4(CTSA):c.444+14C>T rs6032580 0.01474
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252 0.01465
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_003619.4(PRSS12):c.*208C>T rs142775631 0.01464
NM_198586.3(NHLRC1):c.*276G>C rs11966748 0.01453
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.01447
NM_002294.3(LAMP2):c.*2575G>C rs77126790 0.01447
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_080749.4(NEURL2):c.-112C>T rs117529875 0.01440
NM_000308.3(CTSA):c.-43G>T rs116893852 0.01437
NM_000512.5(GALNS):c.*224C>G rs111233947 0.01437
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460 0.01434
NM_000293.3(PHKB):c.*2086A>G rs9940720 0.01397
NM_002294.3(LAMP2):c.*2746A>G rs3827478 0.01396
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805 0.01381
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_001041.4(SI):c.517C>G (p.Pro173Ala) rs146960446 0.01365
NM_000340.2(SLC2A2):c.*909C>T rs77733690 0.01361
NM_000340.2(SLC2A2):c.1069-9T>C rs5407 0.01360
NM_000340.2(SLC2A2):c.*476T>C rs75975646 0.01358
NM_000340.2(SLC2A2):c.*356A>T rs7610064 0.01356
NM_001040716.2(PC):c.-274A>C rs192495346 0.01355
NM_000151.4(G6PC1):c.*745G>T rs116897758 0.01352
NM_152419.3(HGSNAT):c.*817C>T rs78952714 0.01352
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_017755.6(NSUN2):c.*50T>G rs56282400 0.01331
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_000458.4(HNF1B):c.*804T>C rs75361710 0.01316
NM_000262.3(NAGA):c.*1103T>C rs117826003 0.01315
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000343.4(SLC5A1):c.*1508C>A rs8142324 0.01304
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458 0.01301
NM_000642.3(AGL):c.*739A>G rs41285742 0.01299
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_002294.3(LAMP2):c.*2518A>G rs56158197 0.01287
NM_153281.2(HYAL1):c.-414G>A rs587609136 0.01280
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_002299.4(LCT):c.*325G>C rs62170085 0.01267
NM_000343.4(SLC5A1):c.*795G>T rs117904039 0.01237
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
NM_000507.4(FBP1):c.*121T>G rs2274689 0.01225
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01223
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324 0.01219
NM_002863.5(PYGL):c.1621-6T>C rs74539788 0.01217
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_003619.4(PRSS12):c.1272T>G (p.Val424=) rs2292598 0.01208
NM_001352514.2(HLCS):c.*1744G>A rs117270429 0.01206
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_000293.3(PHKB):c.1363+13G>T rs117536391 0.01189
NM_002294.3(LAMP2):c.*3249T>C rs41300908 0.01188
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) rs11302 0.01176
NM_175914.5(HNF4A):c.*155G>A rs41280258 0.01170
NM_000151.4(G6PC1):c.*1012C>T rs75063448 0.01164
NM_000525.4(KCNJ11):c.*376C>T rs5208 0.01164
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_000365.6(TPI1):c.*341C>T rs1804544 0.01157
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569 0.01148
NM_000340.2(SLC2A2):c.*474A>G rs114710971 0.01147
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=) rs33973317 0.01145
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000343.3(SLC5A1):c.-170C>T rs142248518 0.01139
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_002103.5(GYS1):c.1549+7G>A rs5449 0.01125
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01125
NM_000642.3(AGL):c.*575G>T rs60880558 0.01122
NM_000642.3(AGL):c.*1244T>A rs72963791 0.01120
NM_001366110.1(PAX4):c.*33A>C rs150578361 0.01119
NM_153281.2(HYAL1):c.-271G>A rs115085570 0.01118
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_005566.4(LDHA):c.*582C>T rs144317385 0.01099
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_005566.4(LDHA):c.387G>A (p.Pro129=) rs61752915 0.01092
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000343.4(SLC5A1):c.1666-5T>C rs33968460 0.01076
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_000340.2(SLC2A2):c.*920A>C rs56204521 0.01056
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974 0.01056
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_002299.4(LCT):c.*429A>C rs77631953 0.01053
NM_000343.4(SLC5A1):c.*2244C>T rs114700055 0.01052
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472 0.01050
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_006488.3(KHK):c.*79G>A rs75067630 0.01036
NM_006569.6(CGREF1):c.*515A>C rs78413769 0.01034
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_002076.4(GNS):c.*599T>A rs151304792 0.01029
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_000284.4(PDHA1):c.*1563C>G rs7883708 0.01025
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_138413.4(HOGA1):c.777G>A (p.Thr259=) rs34820265 0.01024
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000512.5(GALNS):c.-68C>T rs144789309 0.01019
NM_000262.3(NAGA):c.*1696C>T rs11703233 0.01015
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000284.4(PDHA1):c.*1682T>C rs55744630 0.00998
NM_000293.3(PHKB):c.*1001G>A rs868394484 0.00997
NM_000046.5(ARSB):c.*2859T>C rs116826065 0.00988
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_001715.2(BLK):c.-448T>C rs148891021 0.00986
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456 0.00983
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=) rs33915456 0.00975
NM_017755.6(NSUN2):c.*581T>C rs142451419 0.00970
NM_002294.3(LAMP2):c.*2162G>A rs767123866 0.00966
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_000293.3(PHKB):c.*641C>A rs117861728 0.00962
NM_000046.5(ARSB):c.*2654A>G rs147170505 0.00961
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_006488.3(KHK):c.*540G>C rs60769101 0.00934
NM_003477.3(PDHX):c.*114A>G rs76663700 0.00931
NM_000642.3(AGL):c.*2058G>A rs12117747 0.00930
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_000151.4(G6PC1):c.*1210C>G rs144568330 0.00921
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000199.5(SGSH):c.*201A>T rs139066649 0.00913
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) rs34103538 0.00913
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_000199.5(SGSH):c.*415A>G rs141810727 0.00910
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_001041.4(SI):c.*198G>T rs146143233 0.00908
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_000289.6(PFKM):c.*282C>T rs8977 0.00906
NM_152419.3(HGSNAT):c.*3213T>A rs141634395 0.00899
NM_002591.4(PCK1):c.*359G>A rs3211338 0.00897
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_002076.4(GNS):c.*2751C>T rs137943279 0.00886
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_002863.5(PYGL):c.962G>A (p.Arg321His) rs116465563 0.00878
NM_012203.2(GRHPR):c.493+9C>T rs41303225 0.00873
NM_144563.3(RPIA):c.858A>G (p.Leu286=) rs142341148 0.00870
NM_152419.3(HGSNAT):c.*733G>T rs139144727 0.00863
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00851
NM_000404.4(GLB1):c.*319G>A rs139730198 0.00851
NM_003619.4(PRSS12):c.*1595A>G rs145858385 0.00851
NM_000151.4(G6PC1):c.*250G>A rs143802152 0.00850
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_000151.4(G6PC1):c.*2723G>A rs146698137 0.00848
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615 0.00845
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_000340.2(SLC2A2):c.*325T>A rs189555280 0.00832
NM_080749.4(NEURL2):c.-163T>G rs184484066 0.00832
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_002299.4(LCT):c.301A>G (p.Ser101Gly) rs35837297 0.00812
NM_002294.3(LAMP2):c.*5048A>T rs113285013 0.00807
NM_002637.4(PHKA1):c.-229G>A rs782474797 0.00807
NM_002299.4(LCT):c.1318G>A (p.Val440Ile) rs35940156 0.00802
NM_002076.4(GNS):c.*814T>C rs78614043 0.00798
NM_002076.4(GNS):c.*1228C>T rs115625510 0.00797
NM_002076.4(GNS):c.*1648C>T rs75568735 0.00795
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_003597.5(KLF11):c.*194G>A rs76220150 0.00789
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala) rs33951240 0.00787
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_002299.4(LCT):c.4347T>C (p.Phe1449=) rs17699796 0.00774
NM_000340.2(SLC2A2):c.*1349C>T rs112957674 0.00770
NM_001352514.2(HLCS):c.*2624G>A rs73210780 0.00769
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000343.4(SLC5A1):c.*1203A>G rs149444431 0.00762
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280 0.00761
NM_002300.8(LDHB):c.421+13A>G rs76163762 0.00759
NM_000158.4(GBE1):c.*308C>T rs141214861 0.00757
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256 0.00755
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_006516.4(SLC2A1):c.*60C>T rs2229684 0.00754
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326 0.00753
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056 0.00752
NM_000507.4(FBP1):c.-154C>G rs28382860 0.00743
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_006488.3(KHK):c.879C>A (p.Gly293=) rs116026105 0.00740
NM_002500.5(NEUROD1):c.-65C>T rs8192555 0.00739
NM_003619.4(PRSS12):c.*912G>A rs10212745 0.00737
NM_003597.5(KLF11):c.*235T>C rs150051327 0.00733
NM_000151.4(G6PC1):c.*2474C>T rs143133684 0.00732
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837 0.00726
NM_153281.2(HYAL1):c.-240A>G rs12634784 0.00726
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_006488.3(KHK):c.-245G>A rs192615638 0.00724
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_003619.4(PRSS12):c.1773C>T (p.His591=) rs34131974 0.00712
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_175914.5(HNF4A):c.*3086C>T rs551080524 0.00706
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_003041.4(SLC5A2):c.60T>C (p.Ile20=) rs114050461 0.00699
NM_000027.4(AGA):c.*220G>C rs12502301 0.00696
NM_138413.4(HOGA1):c.*94C>T rs116711005 0.00688
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_003041.4(SLC5A2):c.1626C>G (p.Leu542=) rs75646778 0.00682
NM_002591.4(PCK1):c.12G>A (p.Gln4=) rs28383584 0.00679
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_033159.4(HYAL1):c.*221T>C rs192692460 0.00675
NM_000528.4(MAN2B1):c.*42G>A rs149101136 0.00673
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_003041.4(SLC5A2):c.*63G>A rs114517938 0.00666
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_000343.4(SLC5A1):c.*1432G>T rs28540121 0.00663
NM_198586.3(NHLRC1):c.*344A>T rs147528518 0.00663
NM_001715.2(BLK):c.-530G>A rs115316286 0.00661
NM_000404.4(GLB1):c.*376C>G rs147437116 0.00659
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000293.3(PHKB):c.*740C>T rs184521822 0.00652
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_000035.4(ALDOB):c.*268T>C rs142431256 0.00648
NM_002294.3(LAMP2):c.*3459G>T rs185990694 0.00648
NM_153281.2(HYAL1):c.-272C>T rs139571382 0.00643
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_020897.3(HCN3):c.*1216A>C rs41264939 0.00637
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_000151.4(G6PC1):c.*2532G>A rs76156285 0.00628
NM_000262.3(NAGA):c.*170G>A rs142863061 0.00626
NM_000525.4(KCNJ11):c.*92C>T rs5212 0.00626
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_017755.6(NSUN2):c.-27C>A rs190264173 0.00619
NM_153281.2(HYAL1):c.-319T>C rs1429084988 0.00618
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00617
NM_003597.5(KLF11):c.*107G>A rs140559044 0.00616
NM_002863.5(PYGL):c.1093-6C>A rs147211684 0.00613
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_000485.3(APRT):c.*182A>G rs8191498 0.00599
NM_000046.4(ARSB):c.-246C>T rs180784385 0.00598
NM_000151.4(G6PC1):c.*1454C>T rs148453821 0.00598
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397 0.00598
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000155.4(GALT):c.*148T>C rs115985083 0.00597
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_012434.5(SLC17A5):c.*560G>A rs115453489 0.00594
NM_000525.4(KCNJ11):c.*288G>A rs5209 0.00590
NM_000525.4(KCNJ11):c.*487A>G rs79457490 0.00588
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_003597.5(KLF11):c.*981G>A rs148235172 0.00584
NM_152419.3(HGSNAT):c.*2258A>G rs78930544 0.00584
NM_003597.5(KLF11):c.-76G>A rs1038766626 0.00583
NM_000046.5(ARSB):c.*2708G>A rs141667208 0.00581
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362 0.00580
NM_000262.3(NAGA):c.*161T>C rs150991002 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_152419.3(HGSNAT):c.*477G>A rs76878005 0.00567
NM_003597.5(KLF11):c.*882G>A rs183240123 0.00564
NM_021957.4(GYS2):c.1872A>G (p.Glu624=) rs142883971 0.00562
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182 0.00560
NM_002299.4(LCT):c.3006G>A (p.Arg1002=) rs114815229 0.00558
NM_000046.5(ARSB):c.*1635G>A rs35597782 0.00552
NM_001041.4(SI):c.123T>C (p.Ile41=) rs146222650 0.00551
NM_000155.4(GALT):c.*147A>G rs73501024 0.00548
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018 0.00536
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) rs35110875 0.00531
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739 0.00531
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_001352514.2(HLCS):c.331-7157C>T rs149104163 0.00524
NM_000642.3(AGL):c.*2060T>C rs191429370 0.00522
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_001041.4(SI):c.1398+12T>C rs115295826 0.00514
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_000525.4(KCNJ11):c.*529G>A rs115826080 0.00510
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_152419.3(HGSNAT):c.*1212C>T rs186132187 0.00506
NM_001715.3(BLK):c.-165G>T rs139110057 0.00505
NM_000365.6(TPI1):c.*39G>A rs12692 0.00504
NM_016203.4(PRKAG2):c.-322T>C rs142348760 0.00504
NM_016203.4(PRKAG2):c.-40C>T rs148715621 0.00503
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000046.5(ARSB):c.*2408A>G rs13354324 0.00491
NM_000458.4(HNF1B):c.-67C>T rs140699244 0.00491
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_000404.4(GLB1):c.*184G>A rs143430374 0.00483
NM_006755.2(TALDO1):c.801C>T (p.Asn267=) rs142263629 0.00483
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_152419.3(HGSNAT):c.*2767C>T rs74762381 0.00479
NM_001041.4(SI):c.2923T>C (p.Tyr975His) rs146785675 0.00477
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_003619.4(PRSS12):c.*1615C>T rs150249635 0.00471
NM_001008216.2(GALE):c.-77+241C>G rs566996145 0.00470
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_002103.5(GYS1):c.*256G>A rs148077948 0.00465
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_006488.3(KHK):c.159C>T (p.Leu53=) rs112920456 0.00463
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr) rs16924038 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_001041.4(SI):c.1716-13G>A rs112259253 0.00456
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00455
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849 0.00453
NM_000365.6(TPI1):c.600G>A (p.Ala200=) rs61747602 0.00452
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_000293.3(PHKB):c.*226A>G rs9935072 0.00451
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_000151.4(G6PC1):c.*2184T>A rs146025743 0.00450
NM_000293.3(PHKB):c.1126+14T>G rs28691569 0.00450
NM_021957.4(GYS2):c.*259T>A rs140445396 0.00450
NM_003619.4(PRSS12):c.51A>G (p.Glu17=) rs144853134 0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545 0.00443
NM_002500.5(NEUROD1):c.-60G>A rs189844846 0.00441
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_000308.4(CTSA):c.*51C>G rs375835315 0.00438
NM_000343.4(SLC5A1):c.*2275C>T rs144145176 0.00438
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_002500.5(NEUROD1):c.*719G>A rs184299700 0.00423
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_000293.3(PHKB):c.*915G>A rs151262633 0.00411
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162 0.00410
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_001715.2(BLK):c.-441C>A rs142686759 0.00409
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_021957.4(GYS2):c.*458A>T rs76993768 0.00403
NM_001366110.1(PAX4):c.*287C>T rs12669223 0.00402
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_001352514.2(HLCS):c.*1725A>G rs73398120 0.00399
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
NM_000507.4(FBP1):c.237C>T (p.Asn79=) rs201591116 0.00398
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00394
NM_000404.4(GLB1):c.*182A>G rs76762176 0.00393
NM_000340.2(SLC2A2):c.*796T>C rs140738490 0.00392
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_000525.4(KCNJ11):c.*1168G>A rs182349583 0.00391
NM_001041.4(SI):c.1212G>A (p.Ala404=) rs142838612 0.00391
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_152419.3(HGSNAT):c.*2068A>G rs141499920 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001352514.2(HLCS):c.*3247A>G rs114061673 0.00386
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_001370658.1(BTD):c.*211G>A rs78601074 0.00384
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) rs149354112 0.00383
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_002299.4(LCT):c.*10A>C rs200994158 0.00375
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405 0.00373
NM_003597.5(KLF11):c.*262C>T rs147746428 0.00373
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_000027.4(AGA):c.*850C>T rs149021855 0.00370
NM_000154.2(GALK1):c.*32C>T rs116845474 0.00367
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
NM_000293.3(PHKB):c.*989A>T rs530003571 0.00366
NM_006516.4(SLC2A1):c.*1587A>G rs140560514 0.00366
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_000027.4(AGA):c.*718G>A rs72988642 0.00364
NM_006569.6(CGREF1):c.*516C>T rs114062151 0.00364
NM_152419.3(HGSNAT):c.*2341G>A rs143662681 0.00364
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_144563.3(RPIA):c.*558G>A rs140371867 0.00353
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_198586.3(NHLRC1):c.*320G>A rs79197160 0.00352
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169 0.00351
NM_000512.5(GALNS):c.-32C>T rs556283159 0.00350
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_000046.4(ARSB):c.-239T>A rs115264286 0.00346
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_000289.6(PFKM):c.*411G>A rs79507126 0.00345
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_175914.5(HNF4A):c.*1127T>C rs757386171 0.00337
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00337
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000151.4(G6PC1):c.*2975A>T rs145828729 0.00335
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_000046.5(ARSB):c.*2013G>A rs113059935 0.00334
NM_000046.5(ARSB):c.*1146G>A rs141001994 0.00333
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_000155.4(GALT):c.*105A>G rs183251779 0.00329
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=) rs202182837 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_022895.3(C12orf43):c.*2747C>T rs191295371 0.00327
NM_000525.4(KCNJ11):c.*686A>G rs147282653 0.00324
NM_002637.4(PHKA1):c.-261C>A rs782574152 0.00324
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_138413.4(HOGA1):c.*101C>T rs41290458 0.00319
NM_012434.5(SLC17A5):c.*588G>A rs533473425 0.00317
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_002500.5(NEUROD1):c.*78C>T rs41270211 0.00315
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_152419.3(HGSNAT):c.*2740C>T rs114940430 0.00314
NM_002299.4(LCT):c.2763G>A (p.Ala921=) rs116951780 0.00313
NM_001715.2(BLK):c.-304C>G rs151046937 0.00312
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_003597.5(KLF11):c.*241A>G rs191010106 0.00309
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_002637.4(PHKA1):c.*231A>T rs374264624 0.00308
NM_000343.4(SLC5A1):c.*703C>T rs576036983 0.00305
NM_003597.5(KLF11):c.*980T>C rs113527829 0.00303
NM_001715.3(BLK):c.187G>A (p.Val63Met) rs138972988 0.00302
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_003477.3(PDHX):c.*27A>C rs74524673 0.00299
NM_000154.2(GALK1):c.1107+5G>A rs201663491 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_198586.3(NHLRC1):c.*875T>C rs72839174 0.00296
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000525.4(KCNJ11):c.*848A>G rs5206 0.00291
NM_000155.4(GALT):c.510C>A (p.Ile170=) rs61735984 0.00290
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_006488.3(KHK):c.811+5G>C rs7578864 0.00289
NM_000035.4(ALDOB):c.*189C>T rs185986022 0.00287
NM_000046.5(ARSB):c.*2707C>T rs183918206 0.00285
NM_000035.4(ALDOB):c.*1119C>T rs41296051 0.00284
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_002591.4(PCK1):c.864C>T (p.Cys288=) rs61760966 0.00283
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_002299.4(LCT):c.1617C>T (p.Thr539=) rs35476200 0.00281
NM_021957.4(GYS2):c.-240A>G rs548363075 0.00281
NM_000512.5(GALNS):c.-54G>A rs369448232 0.00280
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_000046.5(ARSB):c.*1153C>A rs116753785 0.00278
NM_002591.4(PCK1):c.179T>C (p.Met60Thr) rs28383586 0.00278
NM_006488.3(KHK):c.*27A>G rs189674797 0.00278
NM_000343.4(SLC5A1):c.*1476A>G rs190638859 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_006721.4(ADK):c.*740C>T rs150465356 0.00276
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_001365304.2(LOC112694756):c.*1740C>T rs191226606 0.00274
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_001352514.2(HLCS):c.*3159_*3162del rs535525635 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_000199.5(SGSH):c.*93A>G rs111628992 0.00267
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594 0.00264
NM_000263.3(NAGLU):c.-144G>A rs538885425 0.00263
NM_002637.4(PHKA1):c.*804C>T rs144538626 0.00263
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile) rs2303708 0.00262
NM_000642.3(AGL):c.*832G>A rs181486858 0.00261
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_001352514.2(HLCS):c.*19C>T rs137949852 0.00259
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val) rs34348416 0.00257
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_000027.4(AGA):c.*8T>C rs112307209 0.00255
NM_006721.4(ADK):c.66-24106T>C rs192064997 0.00255
NM_000199.5(SGSH):c.*232T>C rs113462619 0.00254
NM_001164277.2(SLC37A4):c.-42G>C rs186567090 0.00253
NM_000284.4(PDHA1):c.*1208A>C rs369499936 0.00252
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154 0.00252
NM_002500.4(NEUROD1):c.*1595G>A rs187310461 0.00252
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_033159.4(HYAL1):c.*173T>C rs184872974 0.00250
NM_144563.3(RPIA):c.*241A>G rs151226092 0.00250
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_002294.3(LAMP2):c.*1356C>G rs188897063 0.00249
NM_000046.5(ARSB):c.*2608G>A rs569254528 0.00248
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_002294.3(LAMP2):c.*586A>G rs41312757 0.00248
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_001041.4(SI):c.2678C>T (p.Ala893Val) rs145893756 0.00247
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00245
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00243
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000152.5(GAA):c.*521A>G rs142506588 0.00241
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 0.00240
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val) rs150546732 0.00240
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_022895.3(C12orf43):c.*2053C>T rs140584786 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000293.3(PHKB):c.*590A>G rs143720939 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_002076.4(GNS):c.*2735C>T rs143396704 0.00233
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_006488.3(KHK):c.527G>A (p.Arg176Gln) rs143669793 0.00227
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000151.4(G6PC1):c.*2418G>C rs115371692 0.00224
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_001164277.2(SLC37A4):c.-573C>G rs550169691 0.00220
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_003041.4(SLC5A2):c.*33C>G rs199886583 0.00220
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln) rs41302559 0.00218
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter) rs141733590 0.00217
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) rs61732499 0.00216
NM_000458.4(HNF1B):c.*659G>A rs182736930 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_003051.4(SLC16A1):c.-92G>T rs144301005 0.00214
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu) rs72903215 0.00212
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_000284.4(PDHA1):c.*857A>G rs182836908 0.00208
NM_002591.4(PCK1):c.843G>A (p.Ala281=) rs28359546 0.00208
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00208
NM_001352514.2(HLCS):c.*590A>G rs148195019 0.00207
NM_006516.4(SLC2A1):c.*1588G>A rs189700252 0.00206
NM_006721.4(ADK):c.*375A>G rs185021662 0.00206
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001366110.1(PAX4):c.14-188del rs533462973 0.00204
NM_000284.4(PDHA1):c.*864G>A rs192450087 0.00203
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_002300.8(LDHB):c.523A>G (p.Met175Val) rs7966339 0.00203
NM_000263.3(NAGLU):c.-81C>T rs189515084 0.00202
NM_175914.5(HNF4A):c.*1293C>T rs182919150 0.00201
NM_198586.3(NHLRC1):c.*332G>T rs140122442 0.00201
NM_001041.4(SI):c.2395A>G (p.Ile799Val) rs150246328 0.00198
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000642.2(AGL):c.-208C>T rs563389574 0.00192
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049 0.00192
NM_175914.5(HNF4A):c.*76G>A rs11574743 0.00191
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_002299.4(LCT):c.4866+12C>T rs191207394 0.00190
NM_003051.4(SLC16A1):c.*629C>T rs540946001 0.00189
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_000284.4(PDHA1):c.-98C>T rs192773464 0.00187
NM_000525.4(KCNJ11):c.*1197G>A rs191682072 0.00187
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_002294.3(LAMP2):c.*3494A>G rs180681121 0.00187
NM_000046.5(ARSB):c.*994C>A rs190632756 0.00186
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_006488.3(KHK):c.*214G>A rs183949231 0.00184
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_017755.6(NSUN2):c.-13G>C rs558458633 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_021957.4(GYS2):c.*631del rs576845625 0.00180
NM_002637.4(PHKA1):c.*500C>A rs148465718 0.00179
NM_002294.3(LAMP2):c.*3583A>G rs144504054 0.00178
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg) rs148838160 0.00178
NM_002299.4(LCT):c.4576C>T (p.Leu1526=) rs140074771 0.00178
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_000434.4(NEU1):c.*445T>G rs113824527 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_175914.5(HNF4A):c.*2006T>C rs150112206 0.00175
NM_000035.4(ALDOB):c.*1003A>G rs80292759 0.00174
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_003041.4(SLC5A2):c.*48G>A rs184367787 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_001352514.2(HLCS):c.*1856T>C rs151042283 0.00171
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_000262.3(NAGA):c.*555C>T rs141688392 0.00168
NM_002299.4(LCT):c.2457C>T (p.His819=) rs149425549 0.00168
NM_001041.4(SI):c.3234G>A (p.Arg1078=) rs56082035 0.00167
NM_144563.3(RPIA):c.*256C>T rs574766296 0.00167
NM_000298.6(PKLR):c.*14C>T rs8177994 0.00166
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001 0.00165
NM_002103.5(GYS1):c.*301G>A rs147489255 0.00165
NM_012434.5(SLC17A5):c.*1565C>T rs543558815 0.00164
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_002591.4(PCK1):c.141C>T (p.Asp47=) rs45559338 0.00163
NM_006516.4(SLC2A1):c.*626G>A rs6413525 0.00163
NM_000289.5(PFKM):c.-177G>C rs78512814 0.00162
NM_012434.5(SLC17A5):c.*1492C>G rs148144074 0.00162
NM_021957.4(GYS2):c.1389T>C (p.Ile463=) rs146434233 0.00162
NM_153281.2(HYAL1):c.-320_-319del rs782640837 0.00162
NM_000152.5(GAA):c.-312C>T rs574326920 0.00161
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_175914.5(HNF4A):c.*1783G>T rs564110189 0.00161
NM_000199.5(SGSH):c.*657C>T rs564023302 0.00160
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_017755.6(NSUN2):c.*17G>A rs201903423 0.00160
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_080749.4(NEURL2):c.-43A>G rs554749359 0.00158
NM_003597.5(KLF11):c.*2144C>T rs139703378 0.00157
NM_000035.4(ALDOB):c.*152A>G rs192418526 0.00156
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp) rs149525864 0.00156
NM_138413.4(HOGA1):c.700+5G>T rs185803104 0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_005566.4(LDHA):c.-64T>C rs200916427 0.00155
NM_006488.3(KHK):c.*596C>T rs547856736 0.00155
NM_000458.4(HNF1B):c.*625C>T rs188957129 0.00154
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_006488.3(KHK):c.*469G>A rs187387157 0.00154
NM_000152.5(GAA):c.-116C>T rs190152638 0.00153
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000404.4(GLB1):c.*423A>G rs79603348 0.00153
NM_005566.4(LDHA):c.*604A>T rs148774730 0.00153
NM_003597.5(KLF11):c.*2026G>C rs146068438 0.00152
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_002299.4(LCT):c.30T>C (p.Ile10=) rs150024239 0.00150
NM_003477.3(PDHX):c.*331G>C rs555691861 0.00150
NM_006488.3(KHK):c.790G>A (p.Val264Ile) rs114353144 0.00150
NM_001041.4(SI):c.4951G>A (p.Val1651Ile) rs139876383 0.00149
NM_012434.5(SLC17A5):c.*1155T>A rs921762676 0.00149
NM_002299.4(LCT):c.3597G>A (p.Ala1199=) rs79326512 0.00148
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) rs116841148 0.00148
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_003619.4(PRSS12):c.*574A>G rs191638317 0.00147
NM_175914.5(HNF4A):c.*446G>A rs548013860 0.00147
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr) rs148684857 0.00146
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537 0.00146
NM_152419.3(HGSNAT):c.*3176G>A rs138613130 0.00146
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127 0.00145
NM_000891.3(KCNJ2):c.*732T>G rs150985434 0.00145
NM_000046.4(ARSB):c.-331G>A rs538223324 0.00144
NM_198586.3(NHLRC1):c.*326C>T rs369668171 0.00144
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_000262.3(NAGA):c.*1311T>C rs185586436 0.00142
NM_001352514.2(HLCS):c.*2921A>G rs555149143 0.00141
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000891.3(KCNJ2):c.*210A>T rs146282466 0.00140
NM_000891.3(KCNJ2):c.-314T>C rs566186294 0.00140
NM_001352514.2(HLCS):c.*2243C>T rs554230015 0.00140
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399 0.00138
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00137
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_002299.4(LCT):c.1113G>A (p.Arg371=) rs148142216 0.00135
NM_006488.3(KHK):c.820G>A (p.Val274Met) rs138164728 0.00135
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_002863.5(PYGL):c.*78G>A rs190588867 0.00133
NM_016042.4(EXOSC3):c.*555A>C rs188744146 0.00133
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642 0.00133
NM_152419.3(HGSNAT):c.*871C>A rs151315641 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_003051.4(SLC16A1):c.*948G>A rs543171131 0.00129
NM_144563.3(RPIA):c.*783A>G rs184672681 0.00129
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_003051.4(SLC16A1):c.*104C>T rs182505461 0.00128
NM_000365.6(TPI1):c.*219C>T rs376899563 0.00127
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_000151.4(G6PC1):c.*120G>A rs150477898 0.00126
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948 0.00126
NM_000284.4(PDHA1):c.*549A>G rs187525386 0.00126
NM_000458.4(HNF1B):c.*683G>A rs144234352 0.00126
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_000027.4(AGA):c.*882A>C rs3749479 0.00124
NM_000151.4(G6PC1):c.*986A>T rs370935410 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_001040716.2(PC):c.*89G>A rs186152567 0.00123
NM_020897.3(HCN3):c.*1042A>G rs559809916 0.00122
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_000340.2(SLC2A2):c.*1420T>C rs182503337 0.00121
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_002591.4(PCK1):c.*408T>G rs139159526 0.00121
NM_005566.4(LDHA):c.*243C>G rs76818137 0.00121
NM_021957.4(GYS2):c.-219T>G rs184607089 0.00121
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_000035.4(ALDOB):c.*12C>T rs201867948 0.00118
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000181.4(GUSB):c.*94A>G rs536903750 0.00118
NM_000290.4(PGAM2):c.726C>T (p.Ala242=) rs142209394 0.00118
NM_000512.5(GALNS):c.566+5T>C rs3743545 0.00118
NM_001352514.2(HLCS):c.*3162T>C rs552016201 0.00118
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_003597.5(KLF11):c.*738A>G rs146942100 0.00117
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_002637.4(PHKA1):c.864+11A>G rs181490917 0.00116
NM_003619.4(PRSS12):c.645A>G (p.Gly215=) rs140470579 0.00116
NM_003619.4(PRSS12):c.966C>T (p.Gly322=) rs144866250 0.00116
NM_152419.3(HGSNAT):c.*149G>T rs191719106 0.00116
NM_000525.4(KCNJ11):c.*862G>T rs547635594 0.00115
NM_001352514.2(HLCS):c.*2163A>G rs139776215 0.00115
NM_002500.5(NEUROD1):c.*164_*165del rs574102237 0.00115
NM_000046.3(ARSB):c.-726C>T rs116419942 0.00114
NM_000284.4(PDHA1):c.*575T>C rs191995452 0.00114
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149 0.00114
NM_000152.5(GAA):c.*288G>T rs568131293 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_005566.4(LDHA):c.183G>A (p.Glu61=) rs149588992 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000284.4(PDHA1):c.*1297G>A rs778678656 0.00112
NM_138413.4(HOGA1):c.*68C>T rs551593998 0.00112
NM_002299.4(LCT):c.*235C>T rs116002539 0.00111
NM_006488.3(KHK):c.507C>T (p.Ser169=) rs148222785 0.00111
NM_000284.4(PDHA1):c.*1345A>G rs193253848 0.00110
NM_000642.3(AGL):c.*1766G>A rs564167641 0.00110
NM_001041.4(SI):c.5301G>A (p.Thr1767=) rs150131334 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568 0.00109
NM_000343.4(SLC5A1):c.*1744G>A rs376602365 0.00109
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866 0.00109
NM_001041.4(SI):c.2320A>G (p.Arg774Gly) rs147207752 0.00108
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_002637.4(PHKA1):c.*553C>T rs782055740 0.00108
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932 0.00108
NM_006488.3(KHK):c.189G>A (p.Met63Ile) rs142663158 0.00108
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209 0.00106
NM_000434.4(NEU1):c.408G>A (p.Gly136=) rs41267074 0.00106
NM_000642.3(AGL):c.*604A>G rs189939228 0.00106
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_002591.4(PCK1):c.*363G>A rs1297980275 0.00105
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_000642.3(AGL):c.*1558T>C rs773444393 0.00104
NM_001360016.2(G6PD):c.*520G>A rs782764609 0.00104
NM_006516.4(SLC2A1):c.*346G>A rs190760291 0.00104
NM_000035.4(ALDOB):c.324+8C>G rs118168553 0.00103
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_001352514.2(HLCS):c.*2444C>T rs546201018 0.00103
NM_006755.1(TALDO1):c.-30C>T rs373293125 0.00103
NM_175914.5(HNF4A):c.*1013G>A rs767537996 0.00103
NM_000343.4(SLC5A1):c.*649G>A rs544819758 0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000365.6(TPI1):c.192G>A (p.Ala64=) rs149190846 0.00102
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn) rs11552146 0.00102
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983 0.00101
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_001040716.2(PC):c.1513+13del rs755170894 0.00099
NM_002500.4(NEUROD1):c.*1555C>T rs192155087 0.00099
NM_018444.4(PDP1):c.*1649_*1650insG rs886063184 0.00099
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000035.4(ALDOB):c.*752C>G rs555999328 0.00098
NM_000434.4(NEU1):c.*596G>T rs749671704 0.00098
NM_000507.3(FBP1):c.-238G>A rs974736435 0.00098
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_002294.3(LAMP2):c.*4963del rs754879365 0.00097
NM_000027.4(AGA):c.*852C>T rs182081300 0.00096
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00096
NM_003597.5(KLF11):c.*1608T>G rs142746538 0.00096
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_006488.3(KHK):c.885T>C (p.Asp295=) rs144476131 0.00095
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) rs148981522 0.00094
NM_006488.3(KHK):c.*505G>A rs78939351 0.00094
NM_000152.5(GAA):c.*443G>A rs147801821 0.00093
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_003597.5(KLF11):c.486A>G (p.Pro162=) rs146462049 0.00093
NM_198586.3(NHLRC1):c.*886G>A rs146342540 0.00093
NM_000284.4(PDHA1):c.*349A>G rs1013526559 0.00092
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_138413.4(HOGA1):c.*425T>C rs189957405 0.00092
NM_001352514.2(HLCS):c.331-7170T>A rs181989786 0.00091
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_006755.2(TALDO1):c.36G>A (p.Glu12=) rs150420496 0.00091
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) rs147755711 0.00090
NM_000151.4(G6PC1):c.*1039G>T rs549474805 0.00089
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043 0.00089
NM_000434.4(NEU1):c.432C>T (p.Ser144=) rs114405905 0.00089
NM_002591.4(PCK1):c.1152G>A (p.Thr384=) rs141878699 0.00089
NM_005566.4(LDHA):c.*762T>G rs189063205 0.00089
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_002294.3(LAMP2):c.*853G>A rs763861761 0.00088
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003 0.00088
NM_000027.4(AGA):c.*457A>G rs3749478 0.00087
NM_000151.4(G6PC1):c.*1400G>A rs113536060 0.00087
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_000293.3(PHKB):c.*2075G>A rs189124531 0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_153281.2(HYAL1):c.-241C>A rs12631938 0.00087
NM_175914.5(HNF4A):c.*3153C>A rs569302875 0.00087
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967 0.00086
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001041.4(SI):c.*121C>T rs530056606 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_002299.4(LCT):c.2883C>T (p.Ala961=) rs140994860 0.00086
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) rs138795531 0.00086
NM_003051.3(SLC16A1):c.-349G>A rs750771668 0.00086
NM_006488.3(KHK):c.*259T>G rs766868467 0.00086
NM_002299.4(LCT):c.4026G>A (p.Thr1342=) rs150640616 0.00085
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_005327.7(HADH):c.*377G>A rs148809781 0.00084
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_000199.5(SGSH):c.*378G>A rs372712517 0.00083
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000528.4(MAN2B1):c.*105C>G rs547349667 0.00083
NM_002103.5(GYS1):c.*868A>G rs571576339 0.00083
NM_002294.3(LAMP2):c.-33C>T rs368403767 0.00083
NM_006516.4(SLC2A1):c.*571C>T rs6413524 0.00083
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) rs147495948 0.00082
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr) rs143176318 0.00082
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910 0.00081
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn) rs149783130 0.00081
NM_003619.4(PRSS12):c.2460C>T (p.Ser820=) rs146650218 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_000151.4(G6PC1):c.*2800G>A rs886052967 0.00079
NM_001041.4(SI):c.825C>T (p.Tyr275=) rs139867598 0.00079
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000263.3(NAGLU):c.-167G>T rs145830042 0.00078
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325 0.00078
NM_012434.5(SLC17A5):c.*1533A>G rs530389010 0.00078
NM_152419.3(HGSNAT):c.*304C>A rs752711559 0.00078
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_001164277.2(SLC37A4):c.-700+9C>T rs534659292 0.00077
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_000027.4(AGA):c.*96A>T rs141424240 0.00076
NM_000262.3(NAGA):c.*107G>A rs531819016 0.00076
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000512.5(GALNS):c.*523G>A rs181174683 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_002294.3(LAMP2):c.*1413A>G rs773379092 0.00076
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_033159.4(HYAL1):c.*434C>T rs182987423 0.00076
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_000340.2(SLC2A2):c.*1207G>A rs28579899 0.00074
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_002076.4(GNS):c.*1681C>G rs142676698 0.00074
NM_002294.3(LAMP2):c.*3488C>T rs773236667 0.00074
NM_005327.4(HADH):c.-51delC rs574132278 0.00074
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_000046.5(ARSB):c.*1420G>A rs79166190 0.00073
NM_000158.4(GBE1):c.*468G>A rs750772386 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318 0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_198586.3(NHLRC1):c.*720T>C rs141863990 0.00071
NM_000046.5(ARSB):c.*965A>G rs144818735 0.00070
NM_000294.3(PHKG2):c.-28G>T rs556945561 0.00070
NM_002300.8(LDHB):c.621G>T (p.Val207=) rs147896432 0.00070
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_152419.3(HGSNAT):c.*778T>C rs557848863 0.00070
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_000046.5(ARSB):c.*2243A>G rs145585943 0.00069
NM_002637.4(PHKA1):c.*1275A>G rs782306248 0.00069
NM_152419.3(HGSNAT):c.*772C>G rs538483135 0.00069
NM_198586.3(NHLRC1):c.*442G>C rs555214908 0.00069
NM_000158.4(GBE1):c.*555G>A rs143820392 0.00068
NM_000284.4(PDHA1):c.*432C>T rs754719295 0.00068
NM_000434.4(NEU1):c.402C>T (p.Pro134=) rs142833447 0.00068
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000642.3(AGL):c.*1610T>C rs184983509 0.00068
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_005271.5(GLUD1):c.*1501G>C rs768450394 0.00068
NM_005908.4(MANBA):c.*8T>G rs199881261 0.00068
NM_006488.3(KHK):c.562G>A (p.Val188Met) rs41288797 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_138413.4(HOGA1):c.708G>T (p.Val236=) rs61731946 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849 0.00067
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_002294.3(LAMP2):c.*3687T>C rs185627568 0.00067
NM_012434.5(SLC17A5):c.*799T>C rs529408804 0.00067
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242 0.00066
NM_001008216.2(GALE):c.*195T>C rs78587342 0.00066
NM_001041.4(SI):c.5403C>T (p.Asp1801=) rs146830505 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) rs146467199 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=) rs146879902 0.00065
NM_000458.4(HNF1B):c.*691A>G rs751817675 0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000262.3(NAGA):c.760-7C>A rs150693978 0.00063
NM_000263.3(NAGLU):c.-212G>C rs538288877 0.00063
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00063
NM_000507.4(FBP1):c.334-15T>C rs370920869 0.00063
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu) rs145247580 0.00063
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00063
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=) rs147697689 0.00063
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=) rs145964630 0.00063
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_000284.4(PDHA1):c.*321C>T rs886566327 0.00061
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_000352.5(ABCC8):c.*118A>G rs142441893 0.00061
NM_001352514.2(HLCS):c.331-7076C>T rs541806392 0.00061
NM_002076.4(GNS):c.*1861del rs3832839 0.00061
NM_002103.5(GYS1):c.*357G>A rs570639504 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_152419.3(HGSNAT):c.*390G>A rs541493842 0.00060
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_001352514.2(HLCS):c.*2814C>T rs146199781 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024 0.00059
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075 0.00059
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_001008216.2(GALE):c.*178G>A rs1803612 0.00058
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_138413.4(HOGA1):c.*950G>A rs190392004 0.00058
NM_000155.4(GALT):c.687+9G>C rs117998880 0.00057
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000642.2(AGL):c.-134C>G rs548243205 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001715.3(BLK):c.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn) rs145355418 0.00057
NM_006516.2(SLC2A1):c.-368A>C rs528964239 0.00057
NM_000343.3(SLC5A1):c.-60C>T rs200410750 0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00056
NM_001352514.2(HLCS):c.*2545C>A rs180866987 0.00056
NM_002500.4(NEUROD1):c.*1339T>C rs17847284 0.00056
NM_003051.4(SLC16A1):c.*1654A>G rs761298128 0.00056
NM_003477.3(PDHX):c.161-6T>C rs200438675 0.00056
NM_006488.3(KHK):c.*623G>A rs192172107 0.00056
NM_138413.4(HOGA1):c.*292C>T rs771988623 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_003597.5(KLF11):c.-83G>A rs943136426 0.00055
NM_138413.4(HOGA1):c.*850G>T rs560555907 0.00055
NM_175914.5(HNF4A):c.*271C>T rs11574745 0.00055
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_002299.4(LCT):c.1539G>A (p.Glu513=) rs202186209 0.00054
NM_003597.5(KLF11):c.*2265T>A rs757068768 0.00054
NM_022895.3(C12orf43):c.*2022C>T rs751401246 0.00054
NM_000151.4(G6PC1):c.*1986T>C rs542411157 0.00053
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000642.3(AGL):c.*698A>G rs537319413 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_005327.4(HADH):c.-115delG rs537335460 0.00053
NM_012434.5(SLC17A5):c.*1630G>T rs141885984 0.00053
NM_000046.5(ARSB):c.*3047T>C rs560253823 0.00052
NM_000108.5(DLD):c.*1307C>T rs568807016 0.00052
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00052
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014 0.00052
NM_000343.4(SLC5A1):c.*400C>T rs117362976 0.00052
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) rs141270413 0.00052
NM_138413.4(HOGA1):c.*55T>C rs763365957 0.00052
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188 0.00051
NM_000199.5(SGSH):c.*499C>T rs886053555 0.00051
NM_000512.5(GALNS):c.*197C>T rs187469283 0.00051
NM_000642.3(AGL):c.*595A>G rs763929813 0.00051
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_001041.4(SI):c.2892G>A (p.Thr964=) rs145486890 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) rs149640294 0.00051
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_001008216.2(GALE):c.873+13_873+14insA rs765063773 0.00050
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_002500.5(NEUROD1):c.*253A>G rs546609239 0.00050
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836 0.00050
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000352.6(ABCC8):c.3867+7G>A rs372198547 0.00049
NM_005327.4(HADH):c.-203A>G rs376591232 0.00049
NM_000046.5(ARSB):c.*810C>T rs777160780 0.00048
NM_000262.3(NAGA):c.*176C>G rs191051580 0.00048
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00048
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser) rs201360702 0.00048
NM_003051.4(SLC16A1):c.*516C>G rs754537571 0.00048
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser) rs144787855 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=) rs370453371 0.00047
NM_000340.2(SLC2A2):c.*486T>C rs566222124 0.00047
NM_000512.5(GALNS):c.*573A>G rs551511278 0.00047
NM_001360016.2(G6PD):c.*75C>T rs938857639 0.00047
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000046.5(ARSB):c.*2251G>A rs532513960 0.00046
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000298.6(PKLR):c.507+14C>A rs201156800 0.00046
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_022895.3(C12orf43):c.*1891G>A rs568653423 0.00046
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp) rs147678727 0.00046
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780 0.00045
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510 0.00045
NM_000298.6(PKLR):c.-26C>T rs200181342 0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_000642.3(AGL):c.*564T>C rs552782825 0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met) rs191115811 0.00045
NM_002103.5(GYS1):c.-19C>A rs2287753 0.00045
NM_003597.5(KLF11):c.*612C>T rs187519040 0.00045
NM_022895.3(C12orf43):c.*1649G>A rs56335342 0.00045
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050 0.00044
NM_012434.5(SLC17A5):c.*762C>T rs768718508 0.00044
NM_017755.6(NSUN2):c.258C>T (p.His86=) rs141912087 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180 0.00044
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000289.6(PFKM):c.*622G>A rs568063197 0.00043
NM_002299.4(LCT):c.1461G>A (p.Ala487=) rs146206234 0.00043
NM_002299.4(LCT):c.2760C>T (p.Gly920=) rs200579267 0.00043
NM_002591.4(PCK1):c.64A>G (p.Ser22Gly) rs140235265 0.00043
NM_175914.5(HNF4A):c.*7G>A rs186057842 0.00043
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000027.4(AGA):c.*752G>C rs540646864 0.00042
NM_000155.3(GALT):c.-88G>A rs144505931 0.00042
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_003477.3(PDHX):c.*743G>A rs577162977 0.00042
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00042
NM_152419.3(HGSNAT):c.*3198G>A rs576281567 0.00042
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000293.3(PHKB):c.305+11G>T rs368293023 0.00041
NM_000525.4(KCNJ11):c.-546G>T rs886048045 0.00041
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00041
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_001040716.2(PC):c.486G>A (p.Ala162=) rs142416378 0.00041
NM_001041.4(SI):c.4268-14T>C rs201151548 0.00041
NM_001127628.2(FBP1):c.-24-321C>G rs28382859 0.00041
NM_001160372.4(TRAPPC9):c.2557-14T>A rs757482428 0.00041
NM_002076.4(GNS):c.*152G>A rs768957003 0.00041
NM_002076.4(GNS):c.*357T>C rs554471490 0.00041
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036 0.00041
NM_003051.3(SLC16A1):c.-248G>T rs762453730 0.00041
NM_003597.5(KLF11):c.*756C>T rs886054727 0.00041
NM_003619.4(PRSS12):c.*764A>G rs11098431 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_017755.6(NSUN2):c.1226+4A>T rs202085420 0.00041
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_000046.3(ARSB):c.-590A>T rs138175832 0.00040
NM_000108.5(DLD):c.*1857A>C rs774099916 0.00040
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702 0.00040
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) rs140222720 0.00040
NM_002294.3(LAMP2):c.*4757A>G rs767652057 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_003619.4(PRSS12):c.*920G>C rs567789007 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000158.4(GBE1):c.1237-15C>T rs376809475 0.00039
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000262.3(NAGA):c.-394A>G rs377708906 0.00039
NM_001164277.2(SLC37A4):c.*298C>T rs886047745 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=) rs183103554 0.00039
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met) rs138803748 0.00039
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119 0.00039
NM_012434.4(SLC17A5):c.-107C>A rs867617433 0.00039
NM_016042.4(EXOSC3):c.*954G>A rs530895640 0.00039
NM_175914.5(HNF4A):c.*2153T>C rs760628227 0.00039
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000162.5(GCK):c.*764C>T rs185418856 0.00038
NM_000263.3(NAGLU):c.-271A>G rs369458319 0.00038
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000352.6(ABCC8):c.486C>T (p.Ile162=) rs149872185 0.00038
NM_001014436.3(DBNL):c.*4668T>G rs528717273 0.00038
NM_001041.4(SI):c.2789A>G (p.Gln930Arg) rs150927256 0.00038
NM_001360016.2(G6PD):c.*281C>T rs975719422 0.00038
NM_002500.5(NEUROD1):c.*1096T>C rs188774781 0.00038
NM_003597.5(KLF11):c.-104C>T rs886054718 0.00038
NM_005609.2(PYGM):c.-789T>C rs143460923 0.00038
NM_006516.4(SLC2A1):c.*1337A>C rs113441673 0.00038
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_012434.5(SLC17A5):c.*174G>C rs575300701 0.00038
NM_016042.4(EXOSC3):c.*795A>G rs558579097 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000152.5(GAA):c.*64G>T rs187532717 0.00037
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358 0.00037
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000642.3(AGL):c.*1581G>C rs76338815 0.00037
NM_001039770.3(TMPPE):c.-500C>G rs368944274 0.00037
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00037
NM_002300.7(LDHB):c.-102C>A rs542962114 0.00037
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000298.6(PKLR):c.*582G>A rs758139094 0.00036
NM_000340.2(SLC2A2):c.*153A>G rs530625053 0.00036
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His) rs74574054 0.00036
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449 0.00036
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744 0.00036
NM_000293.3(PHKB):c.*279C>T rs140112731 0.00035
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00035
NM_000891.3(KCNJ2):c.*996C>T rs77958248 0.00035
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562 0.00035
NM_005327.7(HADH):c.349G>C (p.Val117Leu) rs146732064 0.00035
NM_138413.4(HOGA1):c.*289C>T rs540860054 0.00035
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205 0.00035
NM_000027.4(AGA):c.*317T>C rs143028069 0.00034
NM_000151.4(G6PC1):c.*1981C>T rs573802724 0.00034
NM_000151.4(G6PC1):c.*24A>C rs377739870 0.00034
NM_000151.4(G6PC1):c.*556C>T rs533491939 0.00034
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000262.3(NAGA):c.*155A>G rs761125179 0.00034
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys) rs150235677 0.00034
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198 0.00034
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788 0.00034
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001160372.4(TRAPPC9):c.3055+11G>A rs374709193 0.00034
NM_001715.3(BLK):c.*444C>A rs376203568 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_002299.4(LCT):c.3285C>T (p.His1095=) rs372534937 0.00034
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238 0.00034
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr) rs142008108 0.00034
NM_006755.2(TALDO1):c.461+14C>T rs373077928 0.00034
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_017755.6(NSUN2):c.1602-14G>C rs771558713 0.00034
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_000263.3(NAGLU):c.-275T>C rs567758523 0.00033
NM_000284.4(PDHA1):c.*729G>A rs376808450 0.00033
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_000891.3(KCNJ2):c.*35A>C rs72552029 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002500.5(NEUROD1):c.*283A>G rs535699215 0.00033
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=) rs115027760 0.00033
NM_003597.5(KLF11):c.-146C>T rs886054717 0.00033
NM_016042.4(EXOSC3):c.-11T>C rs373191549 0.00033
NM_017755.6(NSUN2):c.*389A>G rs780214753 0.00033
NM_152419.2(HGSNAT):c.-37C>T rs886062951 0.00033
NM_152419.3(HGSNAT):c.*2591G>A rs760484403 0.00033
NM_152419.3(HGSNAT):c.*3086C>T rs531967582 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689 0.00032
NM_000262.3(NAGA):c.*1555C>T rs866446194 0.00032
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466 0.00032
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) rs140545494 0.00032
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925 0.00032
NM_001352514.2(HLCS):c.1621-12T>C rs367728041 0.00032
NM_002076.4(GNS):c.*2301G>A rs141182054 0.00032
NM_012434.5(SLC17A5):c.*550G>A rs538417413 0.00032
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00032
NM_152419.3(HGSNAT):c.*1251C>A rs756060730 0.00032
NM_175914.5(HNF4A):c.*2992C>T rs770250175 0.00032
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000289.5(PFKM):c.-174G>A rs765876195 0.00031
NM_000294.3(PHKG2):c.*22C>T rs372172604 0.00031
NM_000343.3(SLC5A1):c.-120C>T rs886057399 0.00031
NM_000365.6(TPI1):c.*388C>T rs540279409 0.00031
NM_000512.5(GALNS):c.*140C>A rs557356503 0.00031
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151 0.00031
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445 0.00031
NM_002294.3(LAMP2):c.*2148A>G rs756504749 0.00031
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) rs373902181 0.00031
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=) rs150246870 0.00031
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=) rs146677360 0.00031
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys) rs148518827 0.00031
NM_012203.2(GRHPR):c.*24G>A rs202111075 0.00031
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr) rs140568381 0.00031
NM_021957.4(GYS2):c.1251C>T (p.Asn417=) rs139882761 0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys) rs139002629 0.00030
NM_000308.4(CTSA):c.*266T>A rs536094482 0.00030
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_001360016.2(G6PD):c.*548C>T rs181015082 0.00030
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556 0.00030
NM_000046.5(ARSB):c.*1610G>A rs867100156 0.00029
NM_000046.5(ARSB):c.*166G>A rs181321349 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000147.4(FUCA1):c.-44G>A rs139832548 0.00029
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NM_000158.4(GBE1):c.*466G>A rs571158601 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000199.5(SGSH):c.*501C>T rs377165572 0.00029
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281 0.00029
NM_000293.3(PHKB):c.1364-10T>C rs199899291 0.00029
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser) rs139383341 0.00029
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) rs144407534 0.00029
NM_000458.4(HNF1B):c.*445A>G rs571607314 0.00029
NM_000507.4(FBP1):c.102G>C (p.Leu34=) rs143832764 0.00029
NM_000507.4(FBP1):c.495C>T (p.Tyr165=) rs139264724 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu) rs199967717 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_001008216.2(GALE):c.369G>A (p.Gly123=) rs138148991 0.00029
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile) rs199614710 0.00029
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_001160372.4(TRAPPC9):c.2556+11A>G rs201489589 0.00029
NM_001352514.2(HLCS):c.*2771C>T rs746169122 0.00029
NM_001352514.2(HLCS):c.*430T>C rs186680398 0.00029
NM_002103.5(GYS1):c.1338C>T (p.His446=) rs139974904 0.00029
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) rs115207271 0.00029
NM_002591.4(PCK1):c.-40-14G>A rs533125583 0.00029
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341 0.00029
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_003597.5(KLF11):c.*2273C>T rs534714754 0.00029
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_006755.2(TALDO1):c.*30C>T rs200971004 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_000027.4(AGA):c.*136T>C rs184905324 0.00028
NM_000046.5(ARSB):c.*212A>G rs561718720 0.00028
NM_000046.5(ARSB):c.*2559G>A rs975658724 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000404.4(GLB1):c.1347+10G>A rs199538100 0.00028
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_001041.4(SI):c.1919A>G (p.Glu640Gly) rs142789249 0.00028
NM_001715.2(BLK):c.-209C>T rs559867785 0.00028
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901 0.00028
NM_002591.4(PCK1):c.*365G>A rs886056802 0.00028
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028
NM_022895.3(C12orf43):c.*1917C>T rs1039799815 0.00028
NM_000046.5(ARSB):c.*1951A>G rs149854678 0.00027
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000512.5(GALNS):c.*29A>C rs377151771 0.00027
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_001040716.2(PC):c.*15G>A rs45501894 0.00027
NM_002591.4(PCK1):c.954C>T (p.Asp318=) rs147943264 0.00027
NM_002637.4(PHKA1):c.*1865G>T rs782659275 0.00027
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_000151.4(G6PC1):c.*1970A>G rs192778595 0.00026
NM_000152.5(GAA):c.*98A>T rs886053548 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000154.2(GALK1):c.*85C>T rs542735255 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646 0.00026
NM_000343.4(SLC5A1):c.*707G>A rs886057409 0.00026
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00026
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976 0.00026
NM_000458.4(HNF1B):c.*629C>T rs566057658 0.00026
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776 0.00026
NM_000512.5(GALNS):c.1482+4A>G rs377407678 0.00026
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479 0.00026
NM_001040716.2(PC):c.-282G>A rs886048558 0.00026
NM_001041.4(SI):c.5367T>C (p.Tyr1789=) rs144206255 0.00026
NM_001352514.2(HLCS):c.*1084C>T rs530869762 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_003597.5(KLF11):c.*216_*217insTT rs1553314463 0.00026
NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val) rs146362932 0.00026
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867 0.00026
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_175914.5(HNF4A):c.*547G>A rs1031904976 0.00026
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_000343.4(SLC5A1):c.1280+8C>G rs200130719 0.00025
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702 0.00025
NM_000434.4(NEU1):c.-42T>C rs373597058 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_001352514.2(HLCS):c.*2541C>T rs184935954 0.00025
NM_001366110.1(PAX4):c.14-182G>A rs886061971 0.00025
NM_002076.4(GNS):c.*676A>G rs886049769 0.00025
NM_002299.4(LCT):c.840C>T (p.Asn280=) rs150722551 0.00025
NM_002591.4(PCK1):c.*357A>G rs8122025 0.00025
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) rs139661242 0.00025
NM_005566.4(LDHA):c.*725T>G rs753218262 0.00025
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_152419.3(HGSNAT):c.*2266G>T rs75120048 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000035.4(ALDOB):c.*849T>C rs181650438 0.00024
NM_000108.5(DLD):c.*845G>A rs750426584 0.00024
NM_000152.5(GAA):c.1552-14C>T rs199715011 0.00024
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088 0.00024
NM_000284.4(PDHA1):c.-79C>T rs942040058 0.00024
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala) rs137946010 0.00024
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala) rs145047641 0.00024
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610 0.00024
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058 0.00024
NM_000352.6(ABCC8):c.1630+8C>T rs200053398 0.00024
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_001008216.2(GALE):c.423C>T (p.Tyr141=) rs138518245 0.00024
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001352514.2(HLCS):c.*1324T>C rs141644229 0.00024
NM_001365304.2(LOC112694756):c.*1700C>T rs886051897 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_002076.4(GNS):c.*1759A>G rs540594590 0.00024
NM_002076.4(GNS):c.*2099G>A rs553360517 0.00024
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002637.4(PHKA1):c.*887A>G rs1473576299 0.00024
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) rs2228499 0.00024
NM_005271.5(GLUD1):c.*1419T>G rs895697576 0.00024
NM_006721.4(ADK):c.429C>T (p.Cys143=) rs142477111 0.00024
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) rs199560759 0.00024
NM_033159.4(HYAL1):c.*459G>A rs150976767 0.00024
NM_152419.3(HGSNAT):c.*106G>A rs186881132 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812 0.00023
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666 0.00023
NM_002103.5(GYS1):c.*229C>T rs920764718 0.00023
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg) rs201293992 0.00023
NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser) rs144897109 0.00023
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu) rs201735305 0.00023
NM_003619.4(PRSS12):c.*1865T>C rs183712097 0.00023
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00023
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327 0.00022
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352 0.00022
NM_000289.6(PFKM):c.*452T>C rs563335260 0.00022
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) rs141570669 0.00022
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479 0.00022
NM_000298.6(PKLR):c.965+12G>A rs200039500 0.00022
NM_000891.3(KCNJ2):c.*3536C>T rs529969829 0.00022
NM_000891.3(KCNJ2):c.*3618A>G rs530574251 0.00022
NM_000891.3(KCNJ2):c.-228C>T rs765064661 0.00022
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln) rs115923648 0.00022
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001715.3(BLK):c.1349G>A (p.Arg450His) rs202162624 0.00022
NM_002300.8(LDHB):c.749A>G (p.Asn250Ser) rs144739734 0.00022
NM_002591.4(PCK1):c.898C>T (p.Leu300Phe) rs61760967 0.00022
NM_003051.3(SLC16A1):c.-360G>A rs758825428 0.00022
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452 0.00022
NM_005271.5(GLUD1):c.*970A>G rs760207211 0.00022
NM_005566.4(LDHA):c.*817A>C rs527401531 0.00022
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_006755.2(TALDO1):c.930C>T (p.Asp310=) rs181385165 0.00022
NM_016042.4(EXOSC3):c.*847T>A rs566642894 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_017755.6(NSUN2):c.486A>G (p.Glu162=) rs147958833 0.00022
NM_021957.4(GYS2):c.*237T>C rs886049154 0.00022
NM_022895.3(C12orf43):c.*2791G>A rs547080919 0.00022
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=) rs142941035 0.00022
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218 0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983 0.00021
NM_000340.2(SLC2A2):c.-48G>A rs372965718 0.00021
NM_000343.4(SLC5A1):c.*2251G>A rs569361272 0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000528.4(MAN2B1):c.*41C>T rs371716069 0.00021
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_001040716.2(PC):c.*373C>T rs189863040 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_002299.4(LCT):c.2898C>A (p.Leu966=) rs143975097 0.00021
NM_002299.4(LCT):c.4776C>T (p.Gly1592=) rs183168007 0.00021
NM_003051.4(SLC16A1):c.-201T>A rs753315328 0.00021
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) rs554138665 0.00021
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_003477.3(PDHX):c.542+10T>C rs368960575 0.00021
NM_003597.5(KLF11):c.*1155G>A rs886054729 0.00021
NM_003597.5(KLF11):c.*654C>T rs144723641 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys) rs140692906 0.00021
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=) rs1055478673 0.00021
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723 0.00021
NM_000108.5(DLD):c.*1092C>T rs546777301 0.00020
NM_000147.5(FUCA1):c.*270T>C rs143441916 0.00020
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579 0.00020
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000404.4(GLB1):c.1234-11T>A rs145674318 0.00020
NM_000434.4(NEU1):c.*581G>A rs551222239 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_002500.5(NEUROD1):c.*548T>A rs886055324 0.00020
NM_002863.5(PYGL):c.691G>A (p.Val231Met) rs148378112 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_006488.3(KHK):c.210-211C>T rs141417422 0.00020
NM_013995.2(LAMP2):c.-136C>G rs944875305 0.00020
NM_017755.6(NSUN2):c.*16C>T rs368107079 0.00020
NM_022895.3(C12orf43):c.*1796G>A rs927067298 0.00020
NM_198586.3(NHLRC1):c.*38G>T rs377500729 0.00020
NM_000027.4(AGA):c.*219T>C rs755458807 0.00019
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_000046.5(ARSB):c.*933C>T rs924998163 0.00019
NM_000151.4(G6PC1):c.*17G>A rs34537381 0.00019
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_000199.5(SGSH):c.*890G>A rs111726823 0.00019
NM_000293.3(PHKB):c.*132G>A rs375856403 0.00019
NM_000293.3(PHKB):c.1204+9G>T rs200832185 0.00019
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg) rs150902092 0.00019
NM_000298.6(PKLR):c.*499G>A rs777573500 0.00019
NM_000308.4(CTSA):c.1059G>A (p.Pro353=) rs74694805 0.00019
NM_000343.4(SLC5A1):c.*1312A>G rs768251081 0.00019
NM_000343.4(SLC5A1):c.*1995T>C rs999440734 0.00019
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000512.5(GALNS):c.*656T>C rs763539126 0.00019
NM_000642.3(AGL):c.*2160C>T rs753401733 0.00019
NM_001040716.2(PC):c.*353A>G rs557595819 0.00019
NM_001040716.2(PC):c.1266C>T (p.Tyr422=) rs141324828 0.00019
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332 0.00019
NM_001041.4(SI):c.1544G>T (p.Gly515Val) rs144972103 0.00019
NM_001041.4(SI):c.4239C>T (p.Asp1413=) rs138374817 0.00019
NM_001041.4(SI):c.556T>C (p.Ser186Pro) rs142447888 0.00019
NM_001164277.2(SLC37A4):c.-670C>T rs886047754 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001352514.2(HLCS):c.*1852G>T rs551457805 0.00019
NM_003597.5(KLF11):c.*1658G>A rs367805998 0.00019
NM_003597.5(KLF11):c.*674G>C rs574996537 0.00019
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg) rs142266428 0.00019
NM_003619.4(PRSS12):c.1490-15T>C rs746343292 0.00019
NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg) rs139833696 0.00019
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp) rs140467698 0.00019
NM_020897.3(HCN3):c.*1243A>G rs886045347 0.00019
NM_021957.4(GYS2):c.*654G>A rs770305709 0.00019
NM_022895.3(C12orf43):c.*2514A>T rs143731661 0.00019
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00019
NM_152419.3(HGSNAT):c.*2538A>G rs192349256 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_153281.2(HYAL1):c.-395G>A rs886058699 0.00019
NM_153281.2(HYAL1):c.-89G>A rs141540659 0.00019
NM_175914.5(HNF4A):c.*3013A>G rs773868595 0.00019
NM_000046.5(ARSB):c.*1594C>A rs188998831 0.00018
NM_000046.5(ARSB):c.*1729del rs369595123 0.00018
NM_000152.5(GAA):c.*310C>T rs550314730 0.00018
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018
NM_000158.4(GBE1):c.313+15G>A rs184391304 0.00018
NM_000262.3(NAGA):c.697G>A (p.Val233Met) rs201294991 0.00018
NM_000284.4(PDHA1):c.*1306G>A rs745566169 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000293.3(PHKB):c.*323G>C rs886052024 0.00018
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602 0.00018
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000434.4(NEU1):c.*524C>T rs886061286 0.00018
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn) rs202031547 0.00018
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile) rs371426683 0.00018
NM_001352514.2(HLCS):c.*3156A>G rs886738924 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_002294.3(LAMP2):c.*477T>C rs750939378 0.00018
NM_002500.5(NEUROD1):c.*454C>T rs923588837 0.00018
NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln) rs138640682 0.00018
NM_006488.3(KHK):c.*326G>A rs148558475 0.00018
NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg) rs147961544 0.00018
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) rs142835989 0.00018
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser) rs371273730 0.00018
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) rs111033773 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp) rs200080569 0.00017
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564 0.00017
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266 0.00017
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000528.4(MAN2B1):c.2268-11C>T rs537217370 0.00017
NM_000545.8(HNF1A):c.693G>A (p.Thr231=) rs145240086 0.00017
NM_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
NM_000925.4(PDHB):c.*201T>C rs375277648 0.00017
NM_001008216.2(GALE):c.447C>G (p.Pro149=) rs571625657 0.00017
NM_001360016.2(G6PD):c.*365G>A rs1034742794 0.00017
NM_001715.3(BLK):c.*209C>G rs544690947 0.00017
NM_002591.4(PCK1):c.414C>A (p.Thr138=) rs143220447 0.00017
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr) rs140508520 0.00017
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333 0.00017
NM_003597.5(KLF11):c.*982G>A rs550807244 0.00017
NM_003619.4(PRSS12):c.*1141T>C rs574310044 0.00017
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714 0.00017
NM_005908.4(MANBA):c.2416-3C>T rs375466384 0.00017
NM_006488.3(KHK):c.48C>T (p.Val16=) rs200769127 0.00017
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=) rs371042202 0.00017
NM_000030.3(AGXT):c.524+6C>A rs770992934 0.00016
NM_000035.4(ALDOB):c.*286C>T rs886063291 0.00016
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr) rs201234153 0.00016
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745 0.00016
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser) rs138618819 0.00016
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00016
NM_000203.5(IDUA):c.1863A>C (p.Arg621=) rs762586 0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042 0.00016
NM_000284.4(PDHA1):c.*1458C>T rs923765752 0.00016
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000308.3(CTSA):c.-52G>A rs373024722 0.00016
NM_000308.4(CTSA):c.*50C>T rs370691011 0.00016
NM_000343.4(SLC5A1):c.*1237A>G rs368732312 0.00016
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys) rs201800716 0.00016
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861 0.00016
NM_000434.4(NEU1):c.*454A>G rs886061287 0.00016
NM_000458.4(HNF1B):c.*403A>G rs557216745 0.00016
NM_000525.4(KCNJ11):c.*546G>A rs886048037 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_001014436.3(DBNL):c.*1813T>C rs374509693 0.00016
NM_001014436.3(DBNL):c.*4645dup rs554686318 0.00016
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331 0.00016
NM_001352514.2(HLCS):c.*2069T>C rs540511044 0.00016
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 0.00016
NM_002076.4(GNS):c.5G>C (p.Arg2Pro) rs759075764 0.00016
NM_003597.5(KLF11):c.*956C>T rs149067484 0.00016
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005566.4(LDHA):c.*129A>G rs199722017 0.00016
NM_005609.3(PYGM):c.-146C>A rs764403406 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006721.4(ADK):c.*349T>C rs896781492 0.00016
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr) rs146282855 0.00016
NM_016219.5(MAN1B1):c.*553A>G rs754678273 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_021957.4(GYS2):c.*359C>T rs542459418 0.00016
NM_021957.4(GYS2):c.1063-15C>G rs150691568 0.00016
NM_021957.4(GYS2):c.1713C>T (p.Leu571=) rs139122418 0.00016
NM_053013.4(ENO3):c.249C>T (p.Ser83=) rs145859308 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00016
NM_175914.5(HNF4A):c.*1087G>C rs540463510 0.00016
NM_175914.5(HNF4A):c.*2193T>C rs148871044 0.00016
NM_175914.5(HNF4A):c.50-4753G>A rs566155738 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00015
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028 0.00015
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) rs200981229 0.00015
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192 0.00015
NM_000404.4(GLB1):c.1095C>T (p.Ile365=) rs200762972 0.00015
NM_000404.4(GLB1):c.1479+11C>T rs369789589 0.00015
NM_000458.3(HNF1B):c.-232C>T rs142612536 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_001370658.1(BTD):c.-105C>T rs184480128 0.00015
NM_001715.3(BLK):c.-203C>T rs886062592 0.00015
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) rs199605698 0.00015
NM_002103.5(GYS1):c.*370A>C rs185366453 0.00015
NM_002299.4(LCT):c.4362T>G (p.Ser1454=) rs776712928 0.00015
NM_002591.4(PCK1):c.577C>T (p.Leu193Phe) rs139125510 0.00015
NM_003597.5(KLF11):c.-108G>A rs868540286 0.00015
NM_003619.4(PRSS12):c.*233G>C rs886059032 0.00015
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_005609.4(PYGM):c.-76A>G rs139467558 0.00015
NM_006516.4(SLC2A1):c.*971G>A rs185891628 0.00015
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00014
NM_000108.5(DLD):c.*739G>A rs181103944 0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_000147.5(FUCA1):c.405G>A (p.Thr135=) rs145153173 0.00014
NM_000151.4(G6PC1):c.*2133C>T rs183542930 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000155.4(GALT):c.688-4C>T rs374014228 0.00014
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136 0.00014
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000199.4(SGSH):c.-23C>T rs533566888 0.00014
NM_000262.3(NAGA):c.*572G>A rs538578699 0.00014
NM_000293.3(PHKB):c.*991A>G rs951718946 0.00014
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) rs200228396 0.00014
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=) rs148720069 0.00014
NM_000512.5(GALNS):c.*287T>C rs776880179 0.00014
NM_000525.4(KCNJ11):c.*697G>A rs117976105 0.00014
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys) rs139366493 0.00014
NM_000528.4(MAN2B1):c.630+6A>T rs372899975 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_000891.3(KCNJ2):c.*1128dup rs777658732 0.00014
NM_000891.3(KCNJ2):c.*213G>A rs886053326 0.00014
NM_000891.3(KCNJ2):c.*879C>T rs969533203 0.00014
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp) rs771656737 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001041.4(SI):c.3424-12T>C rs77749967 0.00014
NM_001041.4(SI):c.4950C>T (p.Tyr1650=) rs370336977 0.00014
NM_001041.4(SI):c.639T>C (p.Phe213=) rs368517998 0.00014
NM_001352514.2(HLCS):c.*1273T>A rs565500474 0.00014
NM_001352514.2(HLCS):c.294A>C (p.Gln98His) rs751729789 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_002294.3(LAMP2):c.*3452T>C rs752469856 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467 0.00014
NM_003041.4(SLC5A2):c.1450-14T>C rs374122696 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_003619.4(PRSS12):c.*1143C>T rs987189753 0.00014
NM_003619.4(PRSS12):c.*221A>T rs774121509 0.00014
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_017755.6(NSUN2):c.*140T>C rs564014439 0.00014
NM_020897.3(HCN3):c.*1374T>C rs180944719 0.00014
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298 0.00014
NM_022895.3(C12orf43):c.*2097G>A rs750496742 0.00014
NM_138413.4(HOGA1):c.*593G>A rs564823369 0.00014
NM_152419.3(HGSNAT):c.*2472G>C rs773357212 0.00014
NM_152419.3(HGSNAT):c.*2502A>G rs763278248 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*3068C>T rs753843962 0.00014
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_198586.3(NHLRC1):c.*837G>A rs536257194 0.00014
NM_000035.4(ALDOB):c.*898T>C rs886063287 0.00013
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000046.5(ARSB):c.*2571A>G rs963944156 0.00013
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833 0.00013
NM_000108.5(DLD):c.-8G>T rs372155330 0.00013
NM_000151.4(G6PC1):c.*1304G>A rs549833149 0.00013
NM_000152.5(GAA):c.546+3G>A rs371405931 0.00013
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187 0.00013
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
NM_000293.3(PHKB):c.2197-10A>T rs750018974 0.00013
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys) rs762531075 0.00013
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000 0.00013
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr) rs201862174 0.00013
NM_000365.6(TPI1):c.543+6C>T rs369693539 0.00013
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947 0.00013
NM_000458.4(HNF1B):c.-82G>T rs886052892 0.00013
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928 0.00013
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys) rs988974694 0.00013
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.-2C>T rs144760658 0.00013
NM_001041.4(SI):c.4540+4A>G rs201654919 0.00013
NM_001041.4(SI):c.5108+13T>C rs535082142 0.00013
NM_001042351.3(G6PD):c.-23G>A rs782577241 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His) rs201794043 0.00013
NM_001365304.2(LOC112694756):c.*1680C>T rs886051896 0.00013
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=) rs201607054 0.00013
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_002294.3(LAMP2):c.*2476C>T rs776684734 0.00013
NM_002299.4(LCT):c.*230T>C rs749324196 0.00013
NM_002637.4(PHKA1):c.718-12C>A rs782227106 0.00013
NM_003477.3(PDHX):c.*763G>A rs886048250 0.00013
NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu) rs142551296 0.00013
NM_003619.4(PRSS12):c.669G>A (p.Pro223=) rs151271524 0.00013
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005566.4(LDHA):c.*660C>T rs765180823 0.00013
NM_005609.2(PYGM):c.-724C>G rs754685048 0.00013
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr) rs5811 0.00013
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp) rs575361734 0.00013
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser) rs768668950 0.00013
NM_017755.6(NSUN2):c.*294C>G rs886060727 0.00013
NM_017755.6(NSUN2):c.*563C>T rs374769713 0.00013
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=) rs150785220 0.00013
NM_020897.3(HCN3):c.*1068G>A rs528740550 0.00013
NM_021957.4(GYS2):c.1890+12A>G rs192853475 0.00013
NM_022895.3(C12orf43):c.*2340G>A rs1026422272 0.00013
NM_033159.4(HYAL1):c.168C>T (p.Phe56=) rs369935445 0.00013
NM_138413.4(HOGA1):c.*290G>A rs144890621 0.00013
NM_175914.5(HNF4A):c.*1363C>T rs769165584 0.00013
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696 0.00013
NM_000035.4(ALDOB):c.*567C>T rs540272117 0.00012
NM_000046.3(ARSB):c.-848C>T rs571164401 0.00012
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys) rs201209052 0.00012
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000284.4(PDHA1):c.*707G>A rs150945967 0.00012
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695 0.00012
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581 0.00012
NM_000298.6(PKLR):c.1117-13C>T rs145132664 0.00012
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr) rs147453689 0.00012
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp) rs121964845 0.00012
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664 0.00012
NM_000528.4(MAN2B1):c.*91C>T rs145108101 0.00012
NM_001041.4(SI):c.2159+12G>A rs376831754 0.00012
NM_001041.4(SI):c.4849G>C (p.Asp1617His) rs202225928 0.00012
NM_001352514.2(HLCS):c.*1827C>A rs768653798 0.00012
NM_001352514.2(HLCS):c.*2555T>C rs79868396 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_002076.4(GNS):c.*2612G>T rs533328232 0.00012
NM_003597.5(KLF11):c.*2274G>A rs149368043 0.00012
NM_006516.4(SLC2A1):c.*1016A>G rs886046334 0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser) rs763793795 0.00012
NM_021957.4(GYS2):c.630G>A (p.Gly210=) rs201503558 0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091 0.00012
NM_000030.3(AGXT):c.1071+12C>T rs375775541 0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000035.4(ALDOB):c.*819A>C rs780375040 0.00011
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys) rs201397971 0.00011
NM_000046.4(ARSB):c.-187G>A rs529476939 0.00011
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616 0.00011
NM_000155.4(GALT):c.378-12G>A rs151309174 0.00011
NM_000158.4(GBE1):c.*226T>C rs748963117 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000199.5(SGSH):c.*126G>A rs546128310 0.00011
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_000284.4(PDHA1):c.*1450C>T rs747229060 0.00011
NM_000289.6(PFKM):c.*3C>T rs367783282 0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842 0.00011
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000290.4(PGAM2):c.480T>C (p.Ile160=) rs780650903 0.00011
NM_000293.3(PHKB):c.*741G>A rs1041235488 0.00011
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 0.00011
NM_000308.4(CTSA):c.*320G>A rs568876316 0.00011
NM_000308.4(CTSA):c.1036G>A (p.Val346Met) rs137941635 0.00011
NM_000343.4(SLC5A1):c.312+3G>A rs200776237 0.00011
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) rs33918436 0.00011
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met) rs150316347 0.00011
NM_000352.6(ABCC8):c.4119+15C>T rs58368439 0.00011
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr) rs186781398 0.00011
NM_000507.4(FBP1):c.*152C>T rs190431674 0.00011
NM_000507.4(FBP1):c.-130C>A rs1003899519 0.00011
NM_000642.3(AGL):c.*1103A>G rs138743315 0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_000891.3(KCNJ2):c.-349C>A rs370696463 0.00011
NM_000925.3(PDHB):c.-49T>C rs373907802 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698 0.00011
NM_001040716.2(PC):c.904-11C>T rs200473405 0.00011
NM_001041.4(SI):c.118+10A>G rs200646132 0.00011
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726 0.00011
NM_001041.4(SI):c.4458G>A (p.Thr1486=) rs140287192 0.00011
NM_001164277.2(SLC37A4):c.*31C>T rs564775174 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_001715.3(BLK):c.-76G>A rs957686517 0.00011
NM_002076.4(GNS):c.*2843C>T rs577545481 0.00011
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002103.5(GYS1):c.*824del rs886054565 0.00011
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892 0.00011
NM_002294.3(LAMP2):c.*975A>G rs1179268991 0.00011
NM_002299.4(LCT):c.21A>G (p.Val7=) rs377228457 0.00011
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) rs376732886 0.00011
NM_002500.4(NEUROD1):c.*1601C>A rs929497632 0.00011
NM_002500.5(NEUROD1):c.*1033T>G rs555224400 0.00011
NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu) rs149472972 0.00011
NM_002591.4(PCK1):c.521C>T (p.Thr174Met) rs199822253 0.00011
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys) rs144583035 0.00011
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) rs141627694 0.00011
NM_003051.4(SLC16A1):c.*603T>C rs527658261 0.00011
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974 0.00011
NM_003597.5(KLF11):c.*166C>T rs531131204 0.00011
NM_003619.4(PRSS12):c.*604A>C rs551930250 0.00011
NM_005327.7(HADH):c.*142G>A rs560215584 0.00011
NM_005908.4(MANBA):c.*172G>A rs146374185 0.00011
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln) rs146603229 0.00011
NM_016042.4(EXOSC3):c.*402C>T rs567641975 0.00011
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg) rs372680556 0.00011
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys) rs373430024 0.00011
NM_022895.3(C12orf43):c.*2694A>G rs571084139 0.00011
NM_138413.4(HOGA1):c.700+9C>T rs375091787 0.00011
NM_144563.3(RPIA):c.789C>T (p.Asp263=) rs368582524 0.00011
NM_175914.5(HNF4A):c.*2374G>C rs373068234 0.00011
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00011
NM_000046.5(ARSB):c.*1373A>G rs146584784 0.00010
NM_000147.5(FUCA1):c.825A>T (p.Gly275=) rs199675692 0.00010
NM_000151.4(G6PC1):c.*1652C>T rs765883953 0.00010
NM_000152.5(GAA):c.-62A>C rs367731841 0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000199.5(SGSH):c.*471G>A rs138717045 0.00010
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
NM_000203.5(IDUA):c.1402+8G>A rs1315308939 0.00010
NM_000207.3(INS):c.*28G>A rs778107057 0.00010
NM_000262.3(NAGA):c.618G>A (p.Ala206=) rs200770245 0.00010
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000289.6(PFKM):c.-17G>C rs952485517 0.00010
NM_000293.3(PHKB):c.*345C>T rs757393313 0.00010
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys) rs201217052 0.00010
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970 0.00010
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218 0.00010
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00010
NM_000343.4(SLC5A1):c.*1455C>A rs559383534 0.00010
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00010
NM_000352.6(ABCC8):c.723C>T (p.His241=) rs147276708 0.00010
NM_000365.6(TPI1):c.-11G>A rs199634350 0.00010
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327 0.00010
NM_000404.4(GLB1):c.1480-8C>G rs753129246 0.00010
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met) rs1803198 0.00010
NM_000507.4(FBP1):c.-59A>T rs913996916 0.00010
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu) rs759615686 0.00010
NM_000642.3(AGL):c.*1224C>T rs12563807 0.00010
NM_000642.3(AGL):c.*1691A>G rs886044933 0.00010
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543 0.00010
NM_000891.3(KCNJ2):c.*2875_*2876del rs561353262 0.00010
NM_000891.3(KCNJ2):c.*3409A>G rs551384883 0.00010
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=) rs201909993 0.00010
NM_001008216.2(GALE):c.*192T>C rs576468712 0.00010
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00010
NM_001008216.2(GALE):c.647C>T (p.Ala216Val) rs542192037 0.00010
NM_001040716.2(PC):c.*185G>A rs573667993 0.00010
NM_001040716.2(PC):c.2224-14C>T rs780315450 0.00010
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818 0.00010
NM_001352514.2(HLCS):c.*1594A>G rs776064678 0.00010
NM_001365304.2(LOC112694756):c.*1676T>G rs886051895 0.00010
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser) rs143084654 0.00010
NM_001715.3(BLK):c.*229G>C rs1045306871 0.00010
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_002591.4(PCK1):c.858C>T (p.Ser286=) rs150928523 0.00010
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) rs149096315 0.00010
NM_003051.4(SLC16A1):c.*1801A>G rs750135904 0.00010
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_003477.3(PDHX):c.*259G>T rs771515806 0.00010
NM_003477.3(PDHX):c.*650G>A rs886048249 0.00010
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104 0.00010
NM_003597.5(KLF11):c.*1386A>G rs886054732 0.00010
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) rs201005601 0.00010
NM_003619.4(PRSS12):c.2320+6G>C rs369283461 0.00010
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys) rs200481790 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp) rs199565370 0.00010
NM_006488.3(KHK):c.470A>C (p.Asn157Thr) rs150233686 0.00010
NM_006516.4(SLC2A1):c.*587A>T rs748209315 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_016042.4(EXOSC3):c.*63T>G rs753180747 0.00010
NM_017755.6(NSUN2):c.1458T>C (p.His486=) rs200925761 0.00010
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr) rs116527624 0.00010
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00010
NM_000030.3(AGXT):c.942+12C>G rs202001799 0.00009
NM_000035.4(ALDOB):c.*568G>A rs978202633 0.00009
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys) rs772473508 0.00009
NM_000046.5(ARSB):c.*2672A>G rs886060780 0.00009
NM_000108.5(DLD):c.*1877A>G rs182010485 0.00009
NM_000151.4(G6PC1):c.*1324C>T rs548787621 0.00009
NM_000154.2(GALK1):c.840C>T (p.His280=) rs375779311 0.00009
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000181.4(GUSB):c.-10A>T rs540793200 0.00009
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp) rs751604358 0.00009
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln) rs377605690 0.00009
NM_000199.5(SGSH):c.417G>A (p.Thr139=) rs142729872 0.00009
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00009
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452 0.00009
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409 0.00009
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929 0.00009
NM_000340.2(SLC2A2):c.*170G>A rs528459194 0.00009
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) rs751917665 0.00009
NM_000434.4(NEU1):c.*294G>A rs908745663 0.00009
NM_000434.4(NEU1):c.1107C>A (p.Gly369=) rs150864071 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=) rs777286610 0.00009
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649 0.00009
NM_000642.3(AGL):c.*1720A>C rs111689090 0.00009
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006 0.00009
NM_000891.3(KCNJ2):c.-195C>G rs544342049 0.00009
NM_001041.4(SI):c.*217A>C rs577252976 0.00009
NM_001041.4(SI):c.749G>A (p.Arg250His) rs530009542 0.00009
NM_001160372.4(TRAPPC9):c.2556+7T>G rs185632960 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574 0.00009
NM_001360016.2(G6PD):c.*25C>T rs781866772 0.00009
NM_001365304.2(LOC112694756):c.*1705G>A rs539833998 0.00009
NM_001715.3(BLK):c.620-11C>T rs764915190 0.00009
NM_002076.4(GNS):c.*2656G>A rs577212739 0.00009
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595 0.00009
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) rs147610727 0.00009
NM_002294.3(LAMP2):c.*2005C>G rs200014321 0.00009
NM_002294.3(LAMP2):c.*4763A>T rs761928368 0.00009
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) rs752321157 0.00009
NM_002299.4(LCT):c.2293C>A (p.Leu765Ile) rs374623829 0.00009
NM_002299.4(LCT):c.2310A>C (p.Leu770Phe) rs148593528 0.00009
NM_002591.4(PCK1):c.102C>T (p.Asn34=) rs200771350 0.00009
NM_002591.4(PCK1):c.538G>A (p.Val180Ile) rs367998997 0.00009
NM_002637.4(PHKA1):c.*1303T>C rs782190105 0.00009
NM_002637.4(PHKA1):c.*674A>C rs1028190311 0.00009
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=) rs143874850 0.00009
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454 0.00009
NM_003597.5(KLF11):c.1077G>A (p.Met359Ile) rs146486664 0.00009
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro) rs776725808 0.00009
NM_005327.7(HADH):c.-34C>T rs748286204 0.00009
NM_005566.4(LDHA):c.57C>T (p.Pro19=) rs11553870 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983 0.00009
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_006516.4(SLC2A1):c.*463T>C rs186437621 0.00009
NM_006516.4(SLC2A1):c.*651G>T rs886046337 0.00009
NM_006516.4(SLC2A1):c.*784A>G rs886046335 0.00009
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_015957.4(APIP):c.-18G>A rs761199870 0.00009
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met) rs150734795 0.00009
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val) rs375624381 0.00009
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419 0.00009
NM_138413.4(HOGA1):c.*1047T>C rs537101942 0.00009
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val) rs138207257 0.00009
NM_144563.3(RPIA):c.57C>T (p.Pro19=) rs780586313 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544 0.00009
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587 0.00008
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg) rs200382297 0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) rs369789056 0.00008
NM_000293.3(PHKB):c.*1783A>G rs886052032 0.00008
NM_000293.3(PHKB):c.932T>C (p.Val311Ala) rs149685822 0.00008
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu) rs368108194 0.00008
NM_000340.2(SLC2A2):c.*960T>G rs971689457 0.00008
NM_000343.4(SLC5A1):c.*636A>G rs932433422 0.00008
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915 0.00008
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp) rs200626260 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=) rs377045545 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu) rs770317560 0.00008
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln) rs137852328 0.00008
NM_000404.4(GLB1):c.1601A>G (p.His534Arg) rs770982909 0.00008
NM_000507.4(FBP1):c.826-9G>C rs200948424 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp) rs201600797 0.00008
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984 0.00008
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174 0.00008
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_001041.4(SI):c.3331A>G (p.Ile1111Val) rs145913658 0.00008
NM_001041.4(SI):c.801T>C (p.Pro267=) rs752564085 0.00008
NM_001041.4(SI):c.808-14T>A rs762854920 0.00008
NM_001352514.2(HLCS):c.*1085G>A rs531457233 0.00008
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NM_001360016.2(G6PD):c.1287+3G>C rs782786750 0.00008
NM_001365304.2(LOC112694756):c.*622-5C>T rs752764982 0.00008
NM_001366110.1(PAX4):c.14-51G>A rs878919319 0.00008
NM_001715.3(BLK):c.-124C>T rs886062593 0.00008
NM_002294.3(LAMP2):c.*2794T>C rs368937075 0.00008
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile) rs755299574 0.00008
NM_002591.4(PCK1):c.1320T>C (p.Gly440=) rs140553751 0.00008
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=) rs368071005 0.00008
NM_003041.4(SLC5A2):c.*70C>G rs867270650 0.00008
NM_003041.4(SLC5A2):c.469-3A>T rs369221516 0.00008
NM_003477.2(PDHX):c.-162C>A rs759318998 0.00008
NM_003597.5(KLF11):c.1161C>T (p.Asp387=) rs117449189 0.00008
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu) rs145588324 0.00008
NM_005271.5(GLUD1):c.*998C>T rs766730554 0.00008
NM_005327.7(HADH):c.*305T>A rs3822294 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00008
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_006755.2(TALDO1):c.-6C>T rs762014857 0.00008
NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu) rs144914498 0.00008
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) rs185747820 0.00008
NM_016042.4(EXOSC3):c.*611A>G rs939514834 0.00008
NM_017755.6(NSUN2):c.*202C>T rs932103254 0.00008
NM_017755.6(NSUN2):c.*622T>A rs757183970 0.00008
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347 0.00008
NM_138413.4(HOGA1):c.*550A>G rs991121870 0.00008
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys) rs201735532 0.00008
NM_153281.2(HYAL1):c.-90C>T rs886058694 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000035.4(ALDOB):c.*503T>C rs954756064 0.00007
NM_000108.5(DLD):c.*1505C>T rs1053262850 0.00007
NM_000151.4(G6PC1):c.*680G>A rs973632286 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser) rs149248428 0.00007
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter) rs371296953 0.00007
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=) rs201895474 0.00007
NM_000352.3(ABCC8):c.-113G>A rs886048056 0.00007
NM_000545.8(HNF1A):c.42G>A (p.Ala14=) rs775391034 0.00007
NM_000642.3(AGL):c.*292A>G rs541731841 0.00007
NM_000642.3(AGL):c.*400T>C rs541803127 0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr) rs766734350 0.00007
NM_001352514.2(HLCS):c.*2416C>T rs566088233 0.00007
NM_001370658.1(BTD):c.-65G>T rs199516128 0.00007
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298 0.00007
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002294.3(LAMP2):c.*4004C>T rs1001857275 0.00007
NM_002294.3(LAMP2):c.*4006G>T rs905784906 0.00007
NM_002300.8(LDHB):c.130-8G>A rs369064312 0.00007
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His) rs782528091 0.00007
NM_002863.5(PYGL):c.1092+11T>G rs781337096 0.00007
NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=) rs201859484 0.00007
NM_003477.2(PDHX):c.-155G>A rs886048246 0.00007
NM_003597.5(KLF11):c.*1301C>G rs886054731 0.00007
NM_003597.5(KLF11):c.*217G>T rs201145049 0.00007
NM_003597.5(KLF11):c.266C>T (p.Ala89Val) rs766187124 0.00007
NM_003619.4(PRSS12):c.*1660T>C rs372099887 0.00007
NM_003619.4(PRSS12):c.936C>T (p.Ala312=) rs12505679 0.00007
NM_006516.2(SLC2A1):c.-510G>C rs886046347 0.00007
NM_006516.4(SLC2A1):c.*560T>C rs545613558 0.00007
NM_006516.4(SLC2A1):c.*609G>C rs1020397288 0.00007
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln) rs186015859 0.00007
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_053013.4(ENO3):c.1235+7C>T rs759839410 0.00007
NM_138413.4(HOGA1):c.*186C>T rs576078709 0.00007
NM_152419.3(HGSNAT):c.*1215C>T rs571287184 0.00007
NM_152419.3(HGSNAT):c.*1854C>T rs567024411 0.00007
NM_152419.3(HGSNAT):c.*851A>G rs192792114 0.00007
NM_175914.5(HNF4A):c.*3018G>A rs533361991 0.00007
NM_198586.3(NHLRC1):c.*797A>G rs886061250 0.00007
NM_000027.4(AGA):c.*207T>C rs546644917 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000030.3(AGXT):c.*160G>A rs776483024 0.00006
NM_000030.3(AGXT):c.214A>C (p.Asn72His) rs754637713 0.00006
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631 0.00006
NM_000046.5(ARSB):c.*1513C>T rs886060786 0.00006
NM_000046.5(ARSB):c.*2287C>T rs886060782 0.00006
NM_000046.5(ARSB):c.*2684G>A rs188859845 0.00006
NM_000046.5(ARSB):c.*635C>G rs534480571 0.00006
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342 0.00006
NM_000151.4(G6PC1):c.*119C>T rs886052957 0.00006
NM_000151.4(G6PC1):c.*2311C>T rs372226654 0.00006
NM_000151.4(G6PC1):c.*607G>A rs886052960 0.00006
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516 0.00006
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000154.2(GALK1):c.165+6G>A rs779996721 0.00006
NM_000154.2(GALK1):c.267G>T (p.Gln89His) rs144915547 0.00006
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp) rs541580127 0.00006
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00006
NM_000155.4(GALT):c.211C>T (p.Leu71Phe) rs143994870 0.00006
NM_000158.4(GBE1):c.*460C>T rs771301034 0.00006
NM_000158.4(GBE1):c.*558T>C rs886058899 0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000199.5(SGSH):c.*834A>G rs1022741298 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys) rs145645179 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621 0.00006
NM_000207.3(INS):c.*2C>T rs200306755 0.00006
NM_000207.3(INS):c.*42C>T rs376867722 0.00006
NM_000262.3(NAGA):c.*1501C>G rs750373836 0.00006
NM_000262.3(NAGA):c.*55C>T rs1004630693 0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000284.4(PDHA1):c.*1347C>T rs1241045421 0.00006
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln) rs147126221 0.00006
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu) rs151308911 0.00006
NM_000293.3(PHKB):c.*1839C>G rs981081630 0.00006
NM_000293.3(PHKB):c.*1915A>G rs919228154 0.00006
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360 0.00006
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe) rs370363309 0.00006
NM_000294.3(PHKG2):c.318G>T (p.Val106=) rs199743139 0.00006
NM_000308.4(CTSA):c.769G>A (p.Val257Met) rs745752655 0.00006
NM_000340.2(SLC2A2):c.*1260A>G rs573454591 0.00006
NM_000343.4(SLC5A1):c.*1053G>A rs376345201 0.00006
NM_000343.4(SLC5A1):c.*1559C>T rs372572143 0.00006
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val) rs201216997 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.621C>T (p.Pro207=) rs765043940 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp) rs773087569 0.00006
NM_000365.6(TPI1):c.*253G>T rs782730165 0.00006
NM_000404.4(GLB1):c.*44C>T rs199659949 0.00006
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys) rs766214522 0.00006
NM_000458.4(HNF1B):c.*701G>A rs886052888 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000525.4(KCNJ11):c.*1055T>A rs886048032 0.00006
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) rs529884745 0.00006
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042 0.00006
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys) rs142248782 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp) rs376832928 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_000642.3(AGL):c.*1075T>A rs886044931 0.00006
NM_000642.3(AGL):c.*1952C>T rs886044934 0.00006
NM_000642.3(AGL):c.*99del rs886044923 0.00006
NM_000642.3(AGL):c.-95A>G rs937844168 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_000642.3(AGL):c.847-7T>A rs750785301 0.00006
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_000891.3(KCNJ2):c.*3353C>T rs886053346 0.00006
NM_000925.4(PDHB):c.*173C>T rs546485141 0.00006
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734 0.00006
NM_001041.4(SI):c.4873T>G (p.Phe1625Val) rs149414344 0.00006
NM_001041.4(SI):c.748C>T (p.Arg250Cys) rs200745562 0.00006
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln) rs78735156 0.00006
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001352514.2(HLCS):c.*168G>T rs118099059 0.00006
NM_001352514.2(HLCS):c.*3253C>T rs529403596 0.00006
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 0.00006
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699 0.00006
NM_001366110.1(PAX4):c.572G>A (p.Arg191His) rs145284016 0.00006
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850 0.00006
NM_001715.3(BLK):c.*324G>A rs886062600 0.00006
NM_001715.3(BLK):c.*348C>G rs564964151 0.00006
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys) rs199696853 0.00006
NM_002076.4(GNS):c.876-13T>C rs543570530 0.00006
NM_002103.4(GYS1):c.-199T>C rs770497351 0.00006
NM_002103.5(GYS1):c.*1044T>G rs886054564 0.00006
NM_002103.5(GYS1):c.*659C>T rs367578611 0.00006
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys) rs1003071543 0.00006
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) rs377125421 0.00006
NM_002294.3(LAMP2):c.*2183T>C rs765214315 0.00006
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.*721A>C rs887326511 0.00006
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) rs377102890 0.00006
NM_002299.4(LCT):c.4760G>A (p.Arg1587His) rs146614143 0.00006
NM_002299.4(LCT):c.4761C>T (p.Arg1587=) rs573401319 0.00006
NM_002300.8(LDHB):c.585C>T (p.Gly195=) rs141629567 0.00006
NM_002500.5(NEUROD1):c.*907T>C rs747758950 0.00006
NM_002591.4(PCK1):c.228G>T (p.Trp76Cys) rs139008325 0.00006
NM_002591.4(PCK1):c.651G>A (p.Thr217=) rs777897405 0.00006
NM_002637.4(PHKA1):c.*1151C>T rs782605900 0.00006
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His) rs782453258 0.00006
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) rs17721570 0.00006
NM_002863.5(PYGL):c.1620+1G>A rs113993981 0.00006
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) rs756205397 0.00006
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala) rs371605092 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_003051.4(SLC16A1):c.*946G>A rs867810008 0.00006
NM_003384.3(VRK1):c.*107A>G rs375987917 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile) rs370236540 0.00006
NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg) rs199624763 0.00006
NM_003597.5(KLF11):c.1450G>A (p.Gly484Ser) rs750063435 0.00006
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg) rs200061013 0.00006
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp) rs200561467 0.00006
NM_005271.5(GLUD1):c.1279-6G>A rs374548261 0.00006
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=) rs756259685 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005327.7(HADH):c.*335C>A rs780532720 0.00006
NM_005566.4(LDHA):c.*311C>T rs200079157 0.00006
NM_005566.4(LDHA):c.406G>A (p.Val136Ile) rs184074326 0.00006
NM_005609.4(PYGM):c.1239+12G>A rs760471706 0.00006
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591 0.00006
NM_006488.3(KHK):c.-97G>A rs886055885 0.00006
NM_006488.3(KHK):c.210-199T>C rs201650300 0.00006
NM_006488.3(KHK):c.210-334C>T rs368871098 0.00006
NM_006488.3(KHK):c.687C>T (p.Gly229=) rs142428157 0.00006
NM_006488.3(KHK):c.688G>A (p.Ala230Thr) rs745997707 0.00006
NM_006516.4(SLC2A1):c.*750T>A rs886046336 0.00006
NM_006516.4(SLC2A1):c.18+12G>T rs587781171 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_006721.4(ADK):c.66-23966T>C rs886047235 0.00006
NM_006755.2(TALDO1):c.*12G>A rs369845141 0.00006
NM_012434.5(SLC17A5):c.*1692G>A rs540786941 0.00006
NM_015957.4(APIP):c.-30T>C rs567329509 0.00006
NM_016219.5(MAN1B1):c.*113G>A rs762819985 0.00006
NM_016219.5(MAN1B1):c.*86C>T rs771691552 0.00006
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile) rs143449562 0.00006
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu) rs182582633 0.00006
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346 0.00006
NM_022895.3(C12orf43):c.*2570C>G rs868177605 0.00006
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln) rs374011925 0.00006
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_080749.4(NEURL2):c.-64C>T rs566739434 0.00006
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys) rs201450556 0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=) rs201683794 0.00006
NM_144563.3(RPIA):c.*15G>A rs375899017 0.00006
NM_144563.3(RPIA):c.706G>A (p.Val236Met) rs752477415 0.00006
NM_152419.3(HGSNAT):c.*1064A>G rs886062958 0.00006
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00006
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_175914.5(HNF4A):c.*1821C>T rs886056686 0.00006
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000147.5(FUCA1):c.936G>A (p.Leu312=) rs140932886 0.00005
NM_000151.4(G6PC1):c.*103C>T rs1032152255 0.00005
NM_000151.4(G6PC1):c.*1313A>G rs886052962 0.00005
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) rs373041566 0.00005
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp) rs370987432 0.00005
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000181.4(GUSB):c.211-8C>G rs2293340 0.00005
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr) rs11559281 0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000203.5(IDUA):c.1728-9C>T rs374775605 0.00005
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) rs375068243 0.00005
NM_000263.4(NAGLU):c.750C>T (p.Pro250=) rs539019626 0.00005
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 0.00005
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) rs148544344 0.00005
NM_000293.3(PHKB):c.*1709G>A rs1007478681 0.00005
NM_000293.3(PHKB):c.1972-7G>A rs765332910 0.00005
NM_000294.3(PHKG2):c.556+5G>T rs369684098 0.00005
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln) rs374805791 0.00005
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp) rs774192277 0.00005
NM_000340.2(SLC2A2):c.*726T>C rs886058172 0.00005
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=) rs376255565 0.00005
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=) rs144581584 0.00005
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00005
NM_000404.4(GLB1):c.1069-4A>G rs781267265 0.00005
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00005
NM_000642.3(AGL):c.*395C>T rs886044925 0.00005
NM_000642.3(AGL):c.-104C>T rs982037804 0.00005
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990 0.00005
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_001014436.3(DBNL):c.*2017A>G rs367994618 0.00005
NM_001040716.2(PC):c.1233C>T (p.Ser411=) rs747247743 0.00005
NM_001040716.2(PC):c.1368+11G>A rs371731636 0.00005
NM_001040716.2(PC):c.1514-6C>T rs745563711 0.00005
NM_001040716.2(PC):c.751+13G>A rs374607634 0.00005
NM_001041.4(SI):c.5300C>T (p.Thr1767Met) rs199881454 0.00005
NM_001041.4(SI):c.627T>C (p.Gly209=) rs370540330 0.00005
NM_001164277.2(SLC37A4):c.-64C>T rs150026242 0.00005
NM_001352514.2(HLCS):c.*1756C>T rs748180401 0.00005
NM_001352514.2(HLCS):c.*1953A>G rs767162730 0.00005
NM_001352514.2(HLCS):c.*2945C>T rs71332549 0.00005
NM_001352514.2(HLCS):c.*490C>T rs376741921 0.00005
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile) rs200629955 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212 0.00005
NM_001715.3(BLK):c.*376C>T rs886062601 0.00005
NM_001715.3(BLK):c.369-2A>G rs137986278 0.00005
NM_002076.4(GNS):c.*2278A>C rs1036841344 0.00005
NM_002076.4(GNS):c.*2844G>A rs534118009 0.00005
NM_002103.5(GYS1):c.*395C>T rs112850979 0.00005
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys) rs574739791 0.00005
NM_002294.3(LAMP2):c.*1672C>T rs1024440041 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_002299.4(LCT):c.4173+5G>A rs575414951 0.00005
NM_002591.4(PCK1):c.747G>A (p.Arg249=) rs377356631 0.00005
NM_002637.4(PHKA1):c.*467T>C rs970811941 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=) rs1033726905 0.00005
NM_002863.5(PYGL):c.1093-11C>G rs768745213 0.00005
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108 0.00005
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=) rs768523615 0.00005
NM_003051.4(SLC16A1):c.*657C>A rs911644501 0.00005
NM_003477.3(PDHX):c.242-4G>A rs199583315 0.00005
NM_003477.3(PDHX):c.402A>G (p.Glu134=) rs768560478 0.00005
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln) rs563767876 0.00005
NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr) rs752588055 0.00005
NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln) rs754704006 0.00005
NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys) rs753768799 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761 0.00005
NM_006488.3(KHK):c.19C>T (p.Leu7=) rs750201072 0.00005
NM_006516.2(SLC2A1):c.-483G>T rs886046346 0.00005
NM_006516.4(SLC2A1):c.*368A>C rs946103123 0.00005
NM_006516.4(SLC2A1):c.*413G>A rs543194486 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_016219.5(MAN1B1):c.*185T>G rs137960366 0.00005
NM_017755.6(NSUN2):c.*48C>T rs374381984 0.00005
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln) rs756450204 0.00005
NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala) rs373798103 0.00005
NM_021957.4(GYS2):c.1810-3T>C rs375829709 0.00005
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) rs782094366 0.00005
NM_138413.4(HOGA1):c.*352T>C rs545072905 0.00005
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln) rs201145417 0.00005
NM_144563.3(RPIA):c.*29T>G rs183747347 0.00005
NM_152419.3(HGSNAT):c.*1034G>A rs886062957 0.00005
NM_152419.3(HGSNAT):c.*1436A>G rs373032953 0.00005
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482 0.00005
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000030.3(AGXT):c.930C>T (p.Phe310=) rs886055842 0.00004
NM_000035.4(ALDOB):c.401G>A (p.Arg134His) rs145252200 0.00004
NM_000046.5(ARSB):c.*384T>A rs970465323 0.00004
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile) rs138643812 0.00004
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895 0.00004
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn) rs781345107 0.00004
NM_000151.4(G6PC1):c.*1513C>T rs374021788 0.00004
NM_000152.5(GAA):c.*264G>A rs1219851042 0.00004
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077 0.00004
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.196C>T (p.Arg66Trp) rs371971763 0.00004
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073 0.00004
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000155.4(GALT):c.270T>C (p.Asp90=) rs1300102277 0.00004
NM_000158.4(GBE1):c.*598G>C rs886058898 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.23C>T (p.Ala8Val) rs759518868 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val) rs752523400 0.00004
NM_000181.4(GUSB):c.324G>A (p.Pro108=) rs546131174 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038 0.00004
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00004
NM_000203.5(IDUA):c.248G>A (p.Arg83His) rs141461803 0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_000262.3(NAGA):c.*1724C>G rs892278914 0.00004
NM_000262.3(NAGA):c.-43C>T rs753592199 0.00004
NM_000262.3(NAGA):c.324C>T (p.Tyr108=) rs182798205 0.00004
NM_000262.3(NAGA):c.582C>T (p.Gly194=) rs553977653 0.00004
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln) rs144807822 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp) rs368258088 0.00004
NM_000293.3(PHKB):c.*148T>A rs368887864 0.00004
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr) rs147021608 0.00004
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro) rs773528597 0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser) rs373915359 0.00004
NM_000298.6(PKLR):c.*342C>T rs879040355 0.00004
NM_000298.6(PKLR):c.*346_*348del rs556763356 0.00004
NM_000308.4(CTSA):c.1164+7G>A rs775198775 0.00004
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr) rs779275701 0.00004
NM_000308.4(CTSA):c.980T>C (p.Met327Thr) rs140321228 0.00004
NM_000340.2(SLC2A2):c.*1303T>C rs866750823 0.00004
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr) rs776435170 0.00004
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys) rs779977931 0.00004
NM_000340.2(SLC2A2):c.612+10C>A rs762632420 0.00004
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000343.3(SLC5A1):c.-51G>A rs199663392 0.00004
NM_000343.4(SLC5A1):c.*334G>A rs199902294 0.00004
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp) rs200834101 0.00004
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) rs200849778 0.00004
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met) rs763794263 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=) rs367862706 0.00004
NM_000365.6(TPI1):c.261C>T (p.Cys87=) rs370863694 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000404.4(GLB1):c.*224G>T rs557844974 0.00004
NM_000404.4(GLB1):c.1348-7C>T rs774732235 0.00004
NM_000434.4(NEU1):c.1170C>T (p.Tyr390=) rs746607723 0.00004
NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp) rs765074909 0.00004
NM_000507.3(FBP1):c.-246G>T rs921192380 0.00004
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys) rs199531187 0.00004
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu) rs28369761 0.00004
NM_000512.5(GALNS):c.*145C>T rs539285988 0.00004
NM_000512.5(GALNS):c.*95T>A rs536448022 0.00004
NM_000512.5(GALNS):c.97A>G (p.Ile33Val) rs768296954 0.00004
NM_000528.3(MAN2B1):c.-73G>T rs544325509 0.00004
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154 0.00004
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn) rs749183690 0.00004
NM_000528.4(MAN2B1):c.282C>T (p.His94=) rs766810849 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000642.3(AGL):c.*562del rs886044926 0.00004
NM_000642.3(AGL):c.*670A>G rs886044927 0.00004
NM_000891.3(KCNJ2):c.*1320C>T rs923732685 0.00004
NM_000891.3(KCNJ2):c.*1440A>T rs886053332 0.00004
NM_000891.3(KCNJ2):c.*2508G>A rs913851832 0.00004
NM_000891.3(KCNJ2):c.*2812T>C rs886053344 0.00004
NM_000891.3(KCNJ2):c.-88C>T rs886053322 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_001008216.2(GALE):c.*69G>A rs543116262 0.00004
NM_001008216.2(GALE):c.-77+340G>C rs568182391 0.00004
NM_001008216.2(GALE):c.319G>A (p.Val107Ile) rs770332379 0.00004
NM_001008216.2(GALE):c.874-9G>A rs764448821 0.00004
NM_001040716.2(PC):c.*188G>A rs553630251 0.00004
NM_001040716.2(PC):c.2899-9G>A rs372755874 0.00004
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461 0.00004
NM_001041.4(SI):c.3760-7A>G rs367956129 0.00004
NM_001041.4(SI):c.4692+12C>T rs199581970 0.00004
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter) rs779803851 0.00004
NM_001160372.4(TRAPPC9):c.2811-4G>A rs374826041 0.00004
NM_001164277.2(SLC37A4):c.-183C>T rs145369754 0.00004
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001352514.2(HLCS):c.*1089G>A rs146991267 0.00004
NM_001352514.2(HLCS):c.*1094T>C rs780432651 0.00004
NM_001352514.2(HLCS):c.*1097G>A rs886057070 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001352514.2(HLCS):c.494-9A>G rs376397597 0.00004
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala) rs200950813 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.-201G>A rs1468476015 0.00004
NM_001715.3(BLK):c.-47C>T rs150444590 0.00004
NM_001715.3(BLK):c.153G>A (p.Pro51=) rs746710451 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_001715.3(BLK):c.639C>T (p.Cys213=) rs779263158 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_001715.3(BLK):c.810G>A (p.Thr270=) rs749767699 0.00004
NM_002076.4(GNS):c.*2447G>A rs567930294 0.00004
NM_002076.4(GNS):c.*319C>T rs368523842 0.00004
NM_002076.4(GNS):c.*71T>C rs983471422 0.00004
NM_002103.5(GYS1):c.*78C>T rs749720376 0.00004
NM_002103.5(GYS1):c.*969C>T rs900047388 0.00004
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_002103.5(GYS1):c.303G>A (p.Val101=) rs1391443496 0.00004
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862 0.00004
NM_002103.5(GYS1):c.652G>A (p.Val218Met) rs771977818 0.00004
NM_002294.3(LAMP2):c.*4664A>G rs894257602 0.00004
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00004
NM_002299.4(LCT):c.4224G>A (p.Thr1408=) rs199901583 0.00004
NM_002300.8(LDHB):c.375C>T (p.Ile125=) rs141707607 0.00004
NM_002500.5(NEUROD1):c.*718C>T rs886055320 0.00004
NM_002500.5(NEUROD1):c.-81C>T rs567688779 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769 0.00004
NM_002637.4(PHKA1):c.*1797A>G rs1296603872 0.00004
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly) rs782036622 0.00004
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln) rs369207678 0.00004
NM_002863.5(PYGL):c.1519-15C>A rs372886463 0.00004
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu) rs535031004 0.00004
NM_003051.3(SLC16A1):c.-218G>A rs761334745 0.00004
NM_003051.4(SLC16A1):c.*77C>T rs868304120 0.00004
NM_003384.3(VRK1):c.-11C>T rs1055946372 0.00004
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_003597.5(KLF11):c.*1990T>C rs911685125 0.00004
NM_003597.5(KLF11):c.1259-2_1259-1del rs770555623 0.00004
NM_003597.5(KLF11):c.689C>T (p.Ser230Phe) rs370039403 0.00004
NM_003619.4(PRSS12):c.*800G>A rs1368772207 0.00004
NM_003619.4(PRSS12):c.177G>A (p.Pro59=) rs746966869 0.00004
NM_003619.4(PRSS12):c.1916+11C>T rs775761093 0.00004
NM_003619.4(PRSS12):c.2568T>A (p.Pro856=) rs138882049 0.00004
NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter) rs751423861 0.00004
NM_003619.4(PRSS12):c.890A>G (p.His297Arg) rs756685819 0.00004
NM_005327.7(HADH):c.*59G>A rs529762487 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005566.4(LDHA):c.*666C>T rs923756666 0.00004
NM_005566.4(LDHA):c.*745T>C rs867222703 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726 0.00004
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val) rs377371768 0.00004
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) rs143071876 0.00004
NM_006488.3(KHK):c.*554C>T rs558714226 0.00004
NM_006488.3(KHK):c.-379T>A rs886055883 0.00004
NM_006488.3(KHK):c.210-253G>A rs780961189 0.00004
NM_006488.3(KHK):c.473C>A (p.Thr158Asn) rs773003580 0.00004
NM_006488.3(KHK):c.698T>G (p.Leu233Arg) rs768902999 0.00004
NM_006516.4(SLC2A1):c.-129G>T rs936174986 0.00004
NM_006516.4(SLC2A1):c.-192G>C rs886046342 0.00004
NM_006516.4(SLC2A1):c.-194G>A rs984267596 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=) rs534113895 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_006721.4(ADK):c.*296G>A rs527621742 0.00004
NM_006755.2(TALDO1):c.726C>T (p.Gly242=) rs764708645 0.00004
NM_012203.2(GRHPR):c.255C>T (p.Ile85=) rs372985143 0.00004
NM_012434.5(SLC17A5):c.*1696T>C rs886061724 0.00004
NM_012434.5(SLC17A5):c.*373G>A rs886061734 0.00004
NM_016219.5(MAN1B1):c.*191G>A rs1035235945 0.00004
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala) rs369551783 0.00004
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val) rs752395239 0.00004
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys) rs757690679 0.00004
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=) rs558619741 0.00004
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala) rs575503145 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_017755.6(NSUN2):c.1022-3C>T rs370183139 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly) rs767441371 0.00004
NM_021957.4(GYS2):c.2004C>T (p.Tyr668=) rs571493564 0.00004
NM_021957.4(GYS2):c.942-12G>A rs367916210 0.00004
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln) rs368957453 0.00004
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro) rs138211167 0.00004
NM_138413.4(HOGA1):c.269T>A (p.Leu90His) rs373226228 0.00004
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe) rs745919223 0.00004
NM_138413.4(HOGA1):c.538G>A (p.Val180Met) rs114177505 0.00004
NM_152419.3(HGSNAT):c.*1112C>T rs1403363860 0.00004
NM_152419.3(HGSNAT):c.*1378C>T rs886062960 0.00004
NM_152419.3(HGSNAT):c.*2233G>A rs372413542 0.00004
NM_152419.3(HGSNAT):c.*2643G>A rs141803972 0.00004
NM_152419.3(HGSNAT):c.-3G>C rs1162962895 0.00004
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647 0.00004
NM_153281.2(HYAL1):c.-191+15A>G rs886058695 0.00004
NM_175914.5(HNF4A):c.*1828G>A rs759101859 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.*2297C>A rs1341485123 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542 0.00004
NM_000030.3(AGXT):c.-14G>A rs376396832 0.00003
NM_000030.3(AGXT):c.1071+13G>A rs758413374 0.00003
NM_000035.4(ALDOB):c.*209C>T rs1038724691 0.00003
NM_000046.5(ARSB):c.*1326G>T rs974942925 0.00003
NM_000046.5(ARSB):c.-19G>A rs575001282 0.00003
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827 0.00003
NM_000147.5(FUCA1):c.*342C>A rs1023386054 0.00003
NM_000147.5(FUCA1):c.*97T>C rs1639121464 0.00003
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198 0.00003
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.955+14C>A rs756921041 0.00003
NM_000154.2(GALK1):c.-44C>T rs758902207 0.00003
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys) rs769167240 0.00003
NM_000155.4(GALT):c.904+2T>G rs886063885 0.00003
NM_000158.4(GBE1):c.*395A>G rs138608612 0.00003
NM_000162.5(GCK):c.-279C>T rs997877536 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000181.4(GUSB):c.-20C>T rs577269089 0.00003
NM_000199.5(SGSH):c.*309G>A rs566654466 0.00003
NM_000199.5(SGSH):c.*459C>T rs532130517 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp) rs756193095 0.00003
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00003
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) rs752725918 0.00003
NM_000207.3(INS):c.130G>A (p.Gly44Arg) rs765512575 0.00003
NM_000207.3(INS):c.66C>T (p.Ala22=) rs375371953 0.00003
NM_000262.3(NAGA):c.*1252T>C rs886057593 0.00003
NM_000262.3(NAGA):c.110G>A (p.Arg37His) rs199834981 0.00003
NM_000262.3(NAGA):c.638G>A (p.Arg213His) rs781499383 0.00003
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys) rs368220690 0.00003
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln) rs376545731 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000289.6(PFKM):c.*668G>T rs535423254 0.00003
NM_000294.3(PHKG2):c.*47G>A rs767591090 0.00003
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612 0.00003
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp) rs142238268 0.00003
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447 0.00003
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402 0.00003
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln) rs370763298 0.00003
NM_000308.4(CTSA):c.692+13G>A rs371053390 0.00003
NM_000343.4(SLC5A1):c.*1842C>T rs1039766018 0.00003
NM_000343.4(SLC5A1):c.*451A>G rs200434456 0.00003
NM_000343.4(SLC5A1):c.*771C>T rs550005508 0.00003
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val) rs751571109 0.00003
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=) rs540122589 0.00003
NM_000352.6(ABCC8):c.413-15A>G rs758744263 0.00003
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=) rs369810811 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000365.6(TPI1):c.*260G>A rs782764628 0.00003
NM_000365.6(TPI1):c.599C>T (p.Ala200Val) rs139532537 0.00003
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00003
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702 0.00003
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr) rs772539129 0.00003
NM_000434.4(NEU1):c.*269C>T rs886061288 0.00003
NM_000434.4(NEU1):c.249A>C (p.Thr83=) rs954742285 0.00003
NM_000458.4(HNF1B):c.*88A>G rs762266343 0.00003
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000458.4(HNF1B):c.9C>T (p.Ser3=) rs773256244 0.00003
NM_000507.3(FBP1):c.-215G>C rs987543611 0.00003
NM_000507.4(FBP1):c.-18G>T rs1006994685 0.00003
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr) rs569127795 0.00003
NM_000512.5(GALNS):c.*610G>T rs755706847 0.00003
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu) rs769748679 0.00003
NM_000525.4(KCNJ11):c.*311C>T rs886048038 0.00003
NM_000525.4(KCNJ11):c.*849C>G rs1272490539 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075 0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240 0.00003
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=) rs776158673 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.30G>A (p.Thr10=) rs746020457 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000642.3(AGL):c.*1256A>C rs886044932 0.00003
NM_000642.3(AGL):c.*1359A>G rs919030085 0.00003
NM_000642.3(AGL):c.*794A>G rs886044929 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000891.3(KCNJ2):c.*122G>A rs886053324 0.00003
NM_000891.3(KCNJ2):c.*124G>A rs886053325 0.00003
NM_000891.3(KCNJ2):c.*2698T>C rs368668294 0.00003
NM_000891.3(KCNJ2):c.*3032A>G rs548485707 0.00003
NM_000891.3(KCNJ2):c.-348G>A rs993406508 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 0.00003
NM_000925.4(PDHB):c.*360A>G rs886058776 0.00003
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463 0.00003
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) rs780393850 0.00003
NM_001008216.2(GALE):c.988+7G>A rs200182186 0.00003
NM_001040716.2(PC):c.-272G>A rs927187081 0.00003
NM_001040716.2(PC):c.1530C>T (p.Asn510=) rs755162836 0.00003
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252 0.00003
NM_001040716.2(PC):c.3483T>C (p.His1161=) rs190223302 0.00003
NM_001040716.2(PC):c.841G>A (p.Ala281Thr) rs773369359 0.00003
NM_001041.4(SI):c.1-15C>A rs201424057 0.00003
NM_001041.4(SI):c.1715+8C>A rs373673328 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001041.4(SI):c.2566-11A>G rs747570138 0.00003
NM_001041.4(SI):c.2966G>A (p.Arg989His) rs757155810 0.00003
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys) rs756776020 0.00003
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala) rs202077921 0.00003
NM_001041.4(SI):c.4062+11C>T rs747768310 0.00003
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919 0.00003
NM_001041.4(SI):c.453A>G (p.Gln151=) rs374104171 0.00003
NM_001041.4(SI):c.780T>G (p.Ile260Met) rs758621325 0.00003
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=) rs773402743 0.00003
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys) rs145582724 0.00003
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr) rs886051893 0.00003
NM_001352514.2(HLCS):c.*1581T>C rs886057069 0.00003
NM_001352514.2(HLCS):c.*1761_*1762del rs886057067 0.00003
NM_001352514.2(HLCS):c.*334A>G rs886057073 0.00003
NM_001352514.2(HLCS):c.*779A>T rs886057072 0.00003
NM_001352514.2(HLCS):c.*985C>A rs886057071 0.00003
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=) rs147495853 0.00003
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly) rs886057080 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn) rs148426470 0.00003
NM_001360016.2(G6PD):c.*599C>T rs921086000 0.00003
NM_001360016.2(G6PD):c.864+14C>T rs782416820 0.00003
NM_001366110.1(PAX4):c.14-101C>T rs886061970 0.00003
NM_001366110.1(PAX4):c.14-176C>A rs754931916 0.00003
NM_001715.2(BLK):c.-531C>T rs538706235 0.00003
NM_001715.3(BLK):c.1089G>A (p.Ala363=) rs55836779 0.00003
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_002076.4(GNS):c.*2032T>A rs886049763 0.00003
NM_002076.4(GNS):c.*2560T>G rs886049762 0.00003
NM_002076.4(GNS):c.*2625G>A rs1468841522 0.00003
NM_002076.4(GNS):c.*2783C>T rs573404754 0.00003
NM_002076.4(GNS):c.*425G>A rs141736156 0.00003
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn) rs138335335 0.00003
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_002103.5(GYS1):c.-171A>T rs766268073 0.00003
NM_002103.5(GYS1):c.1077G>A (p.Glu359=) rs756998086 0.00003
NM_002103.5(GYS1):c.222G>A (p.Arg74=) rs748174034 0.00003
NM_002103.5(GYS1):c.741G>A (p.Ala247=) rs3745692 0.00003
NM_002294.3(LAMP2):c.*2147T>C rs1314194515 0.00003
NM_002294.3(LAMP2):c.*4858A>G rs943561186 0.00003
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) rs886054867 0.00003
NM_002299.4(LCT):c.3450C>T (p.Ser1150=) rs777067647 0.00003
NM_002299.4(LCT):c.5335+5G>A rs747065034 0.00003
NM_002299.4(LCT):c.5391T>C (p.Asn1797=) rs145827881 0.00003
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) rs369410973 0.00003
NM_002299.4(LCT):c.725C>T (p.Thr242Met) rs757179373 0.00003
NM_002299.4(LCT):c.89C>T (p.Ser30Phe) rs368308800 0.00003
NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys) rs369382991 0.00003
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00003
NM_002591.4(PCK1):c.*392T>C rs111775670 0.00003
NM_002591.4(PCK1):c.-64C>T rs886056793 0.00003
NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln) rs768176085 0.00003
NM_002591.4(PCK1):c.903C>T (p.Pro301=) rs779245706 0.00003
NM_002637.4(PHKA1):c.*2110A>G rs1380630404 0.00003
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His) rs782546754 0.00003
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=) rs782257959 0.00003
NM_002863.5(PYGL):c.369A>G (p.Leu123=) rs778625321 0.00003
NM_002863.5(PYGL):c.772+14A>G rs370866175 0.00003
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln) rs375172368 0.00003
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val) rs199521654 0.00003
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu) rs564249983 0.00003
NM_003051.3(SLC16A1):c.-324T>G rs1019615427 0.00003
NM_003051.4(SLC16A1):c.*1312G>C rs886045059 0.00003
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile) rs200802632 0.00003
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=) rs773196238 0.00003
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_003597.5(KLF11):c.-159G>A rs1445533585 0.00003
NM_003597.5(KLF11):c.305C>G (p.Ser102Trp) rs576350323 0.00003
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly) rs201792575 0.00003
NM_003597.5(KLF11):c.431T>C (p.Val144Ala) rs753049849 0.00003
NM_003619.4(PRSS12):c.1837+1G>A rs201470712 0.00003
NM_003619.4(PRSS12):c.2088T>C (p.His696=) rs141365421 0.00003
NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter) rs1205071832 0.00003
NM_005271.5(GLUD1):c.*1270C>T rs886047370 0.00003
NM_005271.5(GLUD1):c.*1464C>T rs886047368 0.00003
NM_005271.5(GLUD1):c.*1548C>T rs886047366 0.00003
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00003
NM_005566.4(LDHA):c.137A>T (p.Asp46Val) rs201460924 0.00003
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854 0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551 0.00003
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848 0.00003
NM_006488.3(KHK):c.*200A>G rs751205514 0.00003
NM_006516.2(SLC2A1):c.-384G>A rs886046345 0.00003
NM_006516.4(SLC2A1):c.*1149C>A rs779668330 0.00003
NM_006516.4(SLC2A1):c.*1246G>A rs886046330 0.00003
NM_006516.4(SLC2A1):c.*1281A>G rs1057515458 0.00003
NM_006516.4(SLC2A1):c.*322T>G rs886046340 0.00003
NM_006516.4(SLC2A1):c.*597G>A rs886046338 0.00003
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met) rs577667739 0.00003
NM_006721.4(ADK):c.259A>G (p.Ile87Val) rs201734294 0.00003
NM_006755.2(TALDO1):c.*33C>T rs375388046 0.00003
NM_006755.2(TALDO1):c.462-4G>A rs532763032 0.00003
NM_006755.2(TALDO1):c.575G>A (p.Arg192His) rs151052416 0.00003
NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys) rs765872752 0.00003
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr) rs375231328 0.00003
NM_012203.2(GRHPR):c.554G>A (p.Arg185His) rs1327662246 0.00003
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met) rs750954346 0.00003
NM_012434.5(SLC17A5):c.-86A>T rs886061737 0.00003
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val) rs374771372 0.00003
NM_016219.5(MAN1B1):c.*62A>G rs963031485 0.00003
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln) rs765008747 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn) rs376305905 0.00003
NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr) rs766301739 0.00003
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser) rs140003855 0.00003
NM_017755.6(NSUN2):c.914G>A (p.Arg305His) rs368030963 0.00003
NM_020897.3(HCN3):c.*1004C>T rs937795186 0.00003
NM_021957.4(GYS2):c.*406T>G rs886445298 0.00003
NM_021957.4(GYS2):c.1129G>A (p.Val377Met) rs199855783 0.00003
NM_021957.4(GYS2):c.1549G>C (p.Ala517Pro) rs199936257 0.00003
NM_021957.4(GYS2):c.525C>T (p.Val175=) rs77486019 0.00003
NM_021957.4(GYS2):c.627T>A (p.Leu209=) rs767838400 0.00003
NM_021957.4(GYS2):c.799G>A (p.Glu267Lys) rs768020573 0.00003
NM_053013.4(ENO3):c.1047G>A (p.Ser349=) rs527864393 0.00003
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu) rs763327091 0.00003
NM_138413.4(HOGA1):c.909C>T (p.Arg303=) rs764469579 0.00003
NM_144563.3(RPIA):c.*591G>T rs925199328 0.00003
NM_144563.3(RPIA):c.*712T>C rs886056425 0.00003
NM_144563.3(RPIA):c.596+5A>C rs200342264 0.00003
NM_152419.3(HGSNAT):c.*1137C>T rs142422330 0.00003
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00003
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp) rs375524490 0.00003
NM_175914.5(HNF4A):c.*1616G>A rs886056685 0.00003
NM_175914.5(HNF4A):c.*168G>T rs1045382698 0.00003
NM_175914.5(HNF4A):c.*2779A>C rs755438203 0.00003
NM_175914.5(HNF4A):c.*572C>A rs761017274 0.00003
NM_175914.5(HNF4A):c.1216+6C>A rs778818487 0.00003
NM_000027.4(AGA):c.598G>A (p.Asp200Asn) rs761243441 0.00002
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr) rs770158282 0.00002
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496 0.00002
NM_000046.5(ARSB):c.*2164T>A rs950647700 0.00002
NM_000046.5(ARSB):c.*2526T>A rs1174387311 0.00002
NM_000046.5(ARSB):c.*3163T>C rs886060778 0.00002
NM_000046.5(ARSB):c.*618C>T rs757857543 0.00002
NM_000046.5(ARSB):c.*990C>T rs886060793 0.00002
NM_000046.5(ARSB):c.1143-1G>C rs431905495 0.00002
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr) rs886060797 0.00002
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) rs967089304 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_000147.5(FUCA1):c.1260+7A>C rs771229488 0.00002
NM_000151.4(G6PC1):c.*1311G>A rs1395262885 0.00002
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile) rs766230068 0.00002
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484 0.00002
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile) rs774448424 0.00002
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347 0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000152.5(GAA):c.840C>G (p.Asn280Lys) rs747820772 0.00002
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys) rs371641311 0.00002
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys) rs764167059 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1193G>A (p.Arg398His) rs776843811 0.00002
NM_000181.4(GUSB):c.347G>A (p.Arg116His) rs538431094 0.00002
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu) rs748671633 0.00002
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936 0.00002
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) rs199528011 0.00002
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) rs139800248 0.00002
NM_000290.4(PGAM2):c.252T>C (p.Thr84=) rs755125202 0.00002
NM_000292.3(PHKA2):c.869G>A (p.Arg290His) rs186632999 0.00002
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter) rs758004953 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000294.3(PHKG2):c.-3A>G rs1049581523 0.00002
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp) rs746361026 0.00002
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994 0.00002
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser) rs886056713 0.00002
NM_000308.4(CTSA):c.693-3C>T rs773034222 0.00002
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys) rs763381306 0.00002
NM_000340.2(SLC2A2):c.*1004G>A rs1472003372 0.00002
NM_000343.3(SLC5A1):c.-36G>A rs200961861 0.00002
NM_000343.4(SLC5A1):c.*2132C>A rs541518106 0.00002
NM_000343.4(SLC5A1):c.*638T>C rs1049834917 0.00002
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=) rs201834537 0.00002
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) rs368853644 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.291-3C>T rs764107333 0.00002
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp) rs368710356 0.00002
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile) rs774965446 0.00002
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu) rs750165947 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1568A>G (p.His523Arg) rs1175119240 0.00002
NM_000434.4(NEU1):c.*180G>A rs968121109 0.00002
NM_000434.4(NEU1):c.799-4T>C rs759065536 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000507.3(FBP1):c.-219C>T rs1057515693 0.00002
NM_000507.4(FBP1):c.721T>C (p.Tyr241His) rs757338386 0.00002
NM_000512.5(GALNS):c.*263T>C rs886052451 0.00002
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val) rs201153945 0.00002
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.-179C>T rs776949660 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp) rs757621300 0.00002
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser) rs377509266 0.00002
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940 0.00002
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=) rs561895292 0.00002
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=) rs147198532 0.00002
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246 0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000545.8(HNF1A):c.264G>A (p.Glu88=) rs201223431 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000642.3(AGL):c.2682-7T>C rs375256646 0.00002
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084 0.00002
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg) rs769337147 0.00002
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917 0.00002
NM_000891.3(KCNJ2):c.*1367T>C rs565257870 0.00002
NM_000891.3(KCNJ2):c.*1702CT[3] rs1555604187 0.00002
NM_000891.3(KCNJ2):c.*2001A>G rs886053336 0.00002
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_001040716.2(PC):c.*43C>T rs751861809 0.00002
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001040716.2(PC):c.1377C>T (p.Ile459=) rs201776268 0.00002
NM_001040716.2(PC):c.1514-13G>A rs773976056 0.00002
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln) rs148613404 0.00002
NM_001040716.2(PC):c.3213C>T (p.Ala1071=) rs774982916 0.00002
NM_001040716.2(PC):c.543C>T (p.His181=) rs139717038 0.00002
NM_001041.4(SI):c.1106A>G (p.Lys369Arg) rs756534501 0.00002
NM_001041.4(SI):c.1311T>C (p.Asn437=) rs886058149 0.00002
NM_001041.4(SI):c.1616T>C (p.Met539Thr) rs749835475 0.00002
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly) rs760887527 0.00002
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn) rs376341511 0.00002
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408 0.00002
NM_001041.4(SI):c.5109-3T>C rs202110241 0.00002
NM_001041.4(SI):c.5320G>A (p.Val1774Ile) rs771335037 0.00002
NM_001041.4(SI):c.636-14C>T rs746808951 0.00002
NM_001164277.2(SLC37A4):c.*204C>T rs1299052310 0.00002
NM_001164277.2(SLC37A4):c.*263T>C rs183965171 0.00002
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=) rs758499704 0.00002
NM_001352514.2(HLCS):c.*1071G>A rs987334114 0.00002
NM_001352514.2(HLCS):c.*14C>T rs778616712 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys) rs778638155 0.00002
NM_001360016.2(G6PD):c.*466C>G rs1239325414 0.00002
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=) rs1256250108 0.00002
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=) rs782623392 0.00002
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys) rs1377337822 0.00002
NM_001360016.2(G6PD):c.750C>T (p.Phe250=) rs140496395 0.00002
NM_001360016.2(G6PD):c.771-11T>C rs782622284 0.00002
NM_001370658.1(BTD):c.-87G>T rs755119589 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001715.3(BLK):c.41C>T (p.Pro14Leu) rs769734763 0.00002
NM_001715.3(BLK):c.571C>A (p.Pro191Thr) rs769895420 0.00002
NM_001715.3(BLK):c.773-9C>T rs772158649 0.00002
NM_002076.4(GNS):c.*2740G>A rs886049761 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002103.5(GYS1):c.-26C>T rs202114467 0.00002
NM_002103.5(GYS1):c.1020C>T (p.Asp340=) rs13306415 0.00002
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala) rs775775270 0.00002
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr) rs1205499394 0.00002
NM_002103.5(GYS1):c.803A>T (p.His268Leu) rs769630976 0.00002
NM_002294.3(LAMP2):c.*3263T>C rs1164559557 0.00002
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala) rs2058522449 0.00002
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00002
NM_002299.4(LCT):c.2618C>T (p.Pro873Leu) rs367727872 0.00002
NM_002299.4(LCT):c.3759G>A (p.Thr1253=) rs764860323 0.00002
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) rs555708380 0.00002
NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu) rs757978538 0.00002
NM_002300.8(LDHB):c.472C>T (p.Arg158Cys) rs532712842 0.00002
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr) rs775184475 0.00002
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg) rs556400603 0.00002
NM_002591.4(PCK1):c.*249G>T rs886056796 0.00002
NM_002591.4(PCK1):c.*92C>T rs17847706 0.00002
NM_002591.4(PCK1):c.-3G>A rs780659077 0.00002
NM_002591.4(PCK1):c.1537C>T (p.His513Tyr) rs267606016 0.00002
NM_002591.4(PCK1):c.1644C>G (p.Ala548=) rs183812420 0.00002
NM_002591.4(PCK1):c.955G>A (p.Ala319Thr) rs747438321 0.00002
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=) rs782102345 0.00002
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) rs201601894 0.00002
NM_002863.5(PYGL):c.2215C>A (p.Leu739Met) rs766875279 0.00002
NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met) rs760834878 0.00002
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) rs753477563 0.00002
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=) rs372404252 0.00002
NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr) rs769746256 0.00002
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu) rs778273828 0.00002
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=) rs779279429 0.00002
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229 0.00002
NM_003597.5(KLF11):c.*1320G>A rs555032852 0.00002
NM_003597.5(KLF11):c.*2081C>T rs886054736 0.00002
NM_003597.5(KLF11):c.*954C>G rs886054728 0.00002
NM_003597.5(KLF11):c.994C>T (p.Pro332Ser) rs375265808 0.00002
NM_003619.4(PRSS12):c.*1573G>A rs931601172 0.00002
NM_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.55C>T (p.Leu19=) rs892387294 0.00002
NM_005566.4(LDHA):c.*835A>G rs886048092 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_005566.4(LDHA):c.249T>C (p.Tyr83=) rs199653952 0.00002
NM_005609.4(PYGM):c.1239+8C>T rs886048461 0.00002
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser) rs755716626 0.00002
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599 0.00002
NM_005609.4(PYGM):c.346-9C>T rs368998655 0.00002
NM_005908.4(MANBA):c.*447G>A rs1025033156 0.00002
NM_005908.4(MANBA):c.*516T>C rs562838260 0.00002
NM_005908.4(MANBA):c.1317+14C>A rs200935345 0.00002
NM_005908.4(MANBA):c.2389G>A (p.Val797Met) rs747236675 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_006488.3(KHK):c.*28T>C rs745543858 0.00002
NM_006488.3(KHK):c.*49C>T rs776688675 0.00002
NM_006488.3(KHK):c.-15T>G rs763655731 0.00002
NM_006488.3(KHK):c.210-283C>T rs886055886 0.00002
NM_006516.2(SLC2A1):c.-225T>G rs886046343 0.00002
NM_006516.2(SLC2A1):c.-242C>T rs561646847 0.00002
NM_006516.4(SLC2A1):c.*285C>T rs144947295 0.00002
NM_006516.4(SLC2A1):c.*514G>T rs886046339 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser) rs765479065 0.00002
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln) rs397514564 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_006569.6(CGREF1):c.*570G>A rs1459521395 0.00002
NM_006721.4(ADK):c.*337T>G rs886047238 0.00002
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu) rs74692381 0.00002
NM_012434.5(SLC17A5):c.*1566G>A rs886061726 0.00002
NM_016042.4(EXOSC3):c.*194G>C rs886063933 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016219.5(MAN1B1):c.*259G>A rs886063732 0.00002
NM_016219.5(MAN1B1):c.*489G>A rs572418621 0.00002
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser) rs760557104 0.00002
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=) rs779234844 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly) rs762093598 0.00002
NM_017755.6(NSUN2):c.2283G>A (p.Ala761=) rs752702755 0.00002
NM_017755.6(NSUN2):c.255-4A>G rs201837443 0.00002
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) rs142135083 0.00002
NM_021957.4(GYS2):c.1362C>T (p.Asp454=) rs144580757 0.00002
NM_021957.4(GYS2):c.756T>C (p.Ala252=) rs886049159 0.00002
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu) rs761121808 0.00002
NM_053013.4(ENO3):c.554G>T (p.Gly185Val) rs200324278 0.00002
NM_053013.4(ENO3):c.555C>T (p.Gly185=) rs757606682 0.00002
NM_138413.4(HOGA1):c.*109C>T rs534886813 0.00002
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537 0.00002
NM_138413.4(HOGA1):c.39G>A (p.Gly13=) rs200127255 0.00002
NM_144563.3(RPIA):c.218C>G (p.Ser73Cys) rs372920523 0.00002
NM_144563.3(RPIA):c.527+11T>C rs777127840 0.00002
NM_152419.3(HGSNAT):c.*619T>C rs1000241712 0.00002
NM_152419.3(HGSNAT):c.*649A>G rs1333110406 0.00002
NM_152419.3(HGSNAT):c.1128+3G>A rs1401358094 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_152419.3(HGSNAT):c.371+15T>A rs372920077 0.00002
NM_175914.5(HNF4A):c.*867G>A rs940169046 0.00002
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002
NM_198586.3(NHLRC1):c.*210T>C rs1370146880 0.00002
NM_000027.3(AGA):c.-94G>A rs886059264 0.00001
NM_000027.4(AGA):c.*48G>A rs752452878 0.00001
NM_000027.4(AGA):c.*635A>G rs1175193567 0.00001
NM_000027.4(AGA):c.*868C>G rs886059258 0.00001
NM_000027.4(AGA):c.178G>A (p.Gly60Ser) rs1489211352 0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val) rs753394137 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys) rs1254844989 0.00001
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263 0.00001
NM_000030.3(AGXT):c.*285G>A rs567385270 0.00001
NM_000030.3(AGXT):c.*52C>G rs547538869 0.00001
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr) rs749568989 0.00001
NM_000030.3(AGXT):c.40C>T (p.Leu14=) rs2058975287 0.00001
NM_000030.3(AGXT):c.510G>A (p.Gly170=) rs965707125 0.00001
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) rs886055841 0.00001
NM_000035.4(ALDOB):c.-1C>T rs560091436 0.00001
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715 0.00001
NM_000035.4(ALDOB):c.270G>A (p.Gln90=) rs1176960115 0.00001
NM_000035.4(ALDOB):c.309C>T (p.Ile103=) rs747019279 0.00001
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu) rs763058812 0.00001
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr) rs755134927 0.00001
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys) rs777324536 0.00001
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro) rs1831207922 0.00001
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323 0.00001
NM_000046.3(ARSB):c.-1058A>G rs886060802 0.00001
NM_000046.4(ARSB):c.-301G>A rs886060799 0.00001
NM_000046.4(ARSB):c.-507T>C rs886060800 0.00001
NM_000046.5(ARSB):c.*1169T>C rs886060791 0.00001
NM_000046.5(ARSB):c.*2680C>T rs1043901041 0.00001
NM_000046.5(ARSB):c.*2784C>A rs1390008938 0.00001
NM_000046.5(ARSB):c.*2831T>A rs1225906488 0.00001
NM_000046.5(ARSB):c.*3152A>G rs886060779 0.00001
NM_000046.5(ARSB):c.1224C>T (p.Asn408=) rs762454192 0.00001
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly) rs1250729156 0.00001
NM_000046.5(ARSB):c.1453C>G (p.His485Asp) rs751829762 0.00001
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000108.5(DLD):c.*1401G>T rs1266926415 0.00001
NM_000108.5(DLD):c.*1724C>G rs886061913 0.00001
NM_000108.5(DLD):c.*225C>T rs553824101 0.00001
NM_000108.5(DLD):c.*394A>G rs1246423607 0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602 0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846 0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000147.5(FUCA1):c.*527A>G rs886046322 0.00001
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala) rs769788583 0.00001
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg) rs749269943 0.00001
NM_000147.5(FUCA1):c.30G>C (p.Pro10=) rs886046326 0.00001
NM_000147.5(FUCA1):c.472G>A (p.Val158Met) rs550936524 0.00001
NM_000151.4(G6PC1):c.*1671C>T rs568149292 0.00001
NM_000151.4(G6PC1):c.*211T>C rs886052958 0.00001
NM_000151.4(G6PC1):c.*2134G>A rs886052963 0.00001
NM_000151.4(G6PC1):c.*2847T>C rs139115520 0.00001
NM_000151.4(G6PC1):c.*2981G>T rs886052968 0.00001
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877 0.00001
NM_000151.4(G6PC1):c.231-12G>A rs373908549 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748 0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563 0.00001
NM_000152.5(GAA):c.*163G>T rs761668638 0.00001
NM_000152.5(GAA):c.*66G>A rs908570853 0.00001
NM_000152.5(GAA):c.-236C>T rs886053541 0.00001
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868 0.00001
NM_000152.5(GAA):c.1448G>T (p.Gly483Val) rs2039213206 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806 0.00001
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626 0.00001
NM_000152.5(GAA):c.435A>T (p.Glu145Asp) rs765586839 0.00001
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543 0.00001
NM_000152.5(GAA):c.630C>T (p.Ser210=) rs775568949 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser) rs773416475 0.00001
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg) rs201811960 0.00001
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu) rs754230597 0.00001
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg) rs555279924 0.00001
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074 0.00001
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu) rs558638718 0.00001
NM_000154.2(GALK1):c.995C>T (p.Ala332Val) rs886053419 0.00001
NM_000155.4(GALT):c.378-7C>T rs751084584 0.00001
NM_000155.4(GALT):c.773G>A (p.Arg258His) rs773766027 0.00001
NM_000155.4(GALT):c.843G>A (p.Lys281=) rs368298966 0.00001
NM_000158.4(GBE1):c.*545G>C rs548648836 0.00001
NM_000158.4(GBE1):c.-6C>G rs1197683058 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000158.4(GBE1):c.203A>T (p.Lys68Met) rs779371387 0.00001
NM_000158.4(GBE1):c.692-6A>G rs757655010 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.*723A>G rs886062345 0.00001
NM_000162.5(GCK):c.-449G>A rs1375544246 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.580-11C>T rs370016334 0.00001
NM_000181.4(GUSB):c.*55C>T rs372605666 0.00001
NM_000181.4(GUSB):c.-19G>C rs771999951 0.00001
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly) rs767239546 0.00001
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00001
NM_000199.5(SGSH):c.*1098G>A rs886053551 0.00001
NM_000199.5(SGSH):c.*369C>T rs886053557 0.00001
NM_000199.5(SGSH):c.*506C>T rs1011435930 0.00001
NM_000199.5(SGSH):c.*994G>A rs929179426 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) rs767649680 0.00001
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400 0.00001
NM_000199.5(SGSH):c.309G>A (p.Lys103=) rs751641089 0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=) rs2041774244 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu) rs4690224 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471 0.00001
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu) rs536381533 0.00001
NM_000207.3(INS):c.25C>T (p.Pro9Ser) rs372122432 0.00001
NM_000262.3(NAGA):c.*268G>A rs886057596 0.00001
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser) rs778343270 0.00001
NM_000262.3(NAGA):c.12G>A (p.Lys4=) rs776865602 0.00001
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe) rs886057597 0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089 0.00001
NM_000263.3(NAGLU):c.-228C>G rs554915381 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp) rs774918711 0.00001
NM_000284.4(PDHA1):c.*1376C>T rs963546680 0.00001
NM_000284.4(PDHA1):c.*1779A>T rs758279534 0.00001
NM_000284.4(PDHA1):c.*1926G>C rs778062708 0.00001
NM_000289.6(PFKM):c.*532A>G rs927525907 0.00001
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) rs762357629 0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454 0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=) rs1313998695 0.00001
NM_000289.6(PFKM):c.965T>C (p.Met322Thr) rs1225653591 0.00001
NM_000293.3(PHKB):c.*349C>T rs886052025 0.00001
NM_000293.3(PHKB):c.*595G>A rs563945926 0.00001
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr) rs745821795 0.00001
NM_000293.3(PHKB):c.1797+9G>A rs746001808 0.00001
NM_000293.3(PHKB):c.2106C>T (p.Thr702=) rs1248967430 0.00001
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro) rs573384357 0.00001
NM_000293.3(PHKB):c.2196+14A>G rs751084282 0.00001
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg) rs749597903 0.00001
NM_000293.3(PHKB):c.522del (p.Val175fs) rs1242540921 0.00001
NM_000293.3(PHKB):c.595-5T>G rs369184808 0.00001
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000293.3(PHKB):c.76+2T>C rs1303617854 0.00001
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser) rs143805637 0.00001
NM_000294.2(PHKG2):c.-106G>A rs879382458 0.00001
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr) rs192866993 0.00001
NM_000294.3(PHKG2):c.95+11G>A rs886051910 0.00001
NM_000298.6(PKLR):c.*275C>T rs886045350 0.00001
NM_000298.6(PKLR):c.-31G>A rs778164541 0.00001
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674 0.00001
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu) rs763466930 0.00001
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln) rs768210809 0.00001
NM_000308.4(CTSA):c.-42C>T rs765245462 0.00001
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser) rs200051553 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu) rs778824488 0.00001
NM_000340.2(SLC2A2):c.*1086G>A rs185726034 0.00001
NM_000340.2(SLC2A2):c.*11C>G rs761913998 0.00001
NM_000340.2(SLC2A2):c.*166G>A rs1232606277 0.00001
NM_000340.2(SLC2A2):c.*568A>T rs886058173 0.00001
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=) rs775605288 0.00001
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His) rs75144723 0.00001
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr) rs1373290524 0.00001
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=) rs5401 0.00001
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val) rs779065938 0.00001
NM_000343.3(SLC5A1):c.-238G>A rs1349973469 0.00001
NM_000343.4(SLC5A1):c.*1408G>A rs1243897828 0.00001
NM_000343.4(SLC5A1):c.*1595A>C rs1232699809 0.00001
NM_000343.4(SLC5A1):c.*1755T>G rs886057413 0.00001
NM_000343.4(SLC5A1):c.*2201G>A rs1394513769 0.00001
NM_000343.4(SLC5A1):c.*2694A>G rs1379735549 0.00001
NM_000343.4(SLC5A1):c.*599C>T rs2094055488 0.00001
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr) rs774741107 0.00001
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=) rs1229387697 0.00001
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893 0.00001
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) rs1475148938 0.00001
NM_000343.4(SLC5A1):c.208-13T>A rs200261297 0.00001
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile) rs777779839 0.00001
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp) rs1336341879 0.00001
NM_000352.6(ABCC8):c.148+3G>A rs996321405 0.00001
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr) rs886048054 0.00001
NM_000352.6(ABCC8):c.1924-9C>T rs1218098329 0.00001
NM_000352.6(ABCC8):c.2256-3C>T rs756328102 0.00001
NM_000352.6(ABCC8):c.2694+15G>A rs886048051 0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678 0.00001
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=) rs780868010 0.00001
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu) rs775087568 0.00001
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr) rs745895362 0.00001
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=) rs771538281 0.00001
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=) rs144207158 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=) rs765708759 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=) rs547430068 0.00001
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716 0.00001
NM_000352.6(ABCC8):c.4545+9T>C rs775018351 0.00001
NM_000352.6(ABCC8):c.507C>T (p.Phe169=) rs755745806 0.00001
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu) rs368894930 0.00001
NM_000352.6(ABCC8):c.933G>C (p.Leu311=) rs776498313 0.00001
NM_000365.6(TPI1):c.*239C>T rs886049811 0.00001
NM_000365.6(TPI1):c.*69C>T rs782061169 0.00001
NM_000365.6(TPI1):c.1A>G (p.Met1Val) rs201432576 0.00001
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser) rs781891192 0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461 0.00001
NM_000404.3(GLB1):c.-73C>T rs530326876 0.00001
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880 0.00001
NM_000404.4(GLB1):c.553-8A>G rs886058342 0.00001
NM_000411.8(HLCS):c.-393+7C>T rs886057081 0.00001
NM_000434.3(NEU1):c.-49C>T rs374172739 0.00001
NM_000434.3(NEU1):c.-76C>G rs566696697 0.00001
NM_000434.4(NEU1):c.-13G>A rs886061291 0.00001
NM_000434.4(NEU1):c.1089A>G (p.Leu363=) rs757684373 0.00001
NM_000434.4(NEU1):c.1217T>A (p.Val406Glu) rs1762428314 0.00001
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp) rs886061289 0.00001
NM_000434.4(NEU1):c.826G>A (p.Val276Ile) rs199697301 0.00001
NM_000434.4(NEU1):c.888T>C (p.Tyr296=) rs754422982 0.00001
NM_000458.4(HNF1B):c.*789T>C rs886052887 0.00001
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr) rs772315985 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000507.4(FBP1):c.397G>A (p.Val133Ile) rs368583779 0.00001
NM_000507.4(FBP1):c.443C>A (p.Pro148His) rs753167849 0.00001
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp) rs369420846 0.00001
NM_000507.4(FBP1):c.705A>G (p.Pro235=) rs112446147 0.00001
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln) rs775808681 0.00001
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala) rs758841300 0.00001
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) rs201508880 0.00001
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys) rs1564191912 0.00001
NM_000512.5(GALNS):c.*144T>C rs1157099470 0.00001
NM_000512.5(GALNS):c.*186C>G rs1032068378 0.00001
NM_000512.5(GALNS):c.*20C>G rs886052454 0.00001
NM_000512.5(GALNS):c.*503T>G rs573836350 0.00001
NM_000512.5(GALNS):c.*639T>G rs1186947306 0.00001
NM_000512.5(GALNS):c.*86C>T rs897826613 0.00001
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe) rs368784505 0.00001
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp) rs762690924 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr) rs763093375 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NM_000525.4(KCNJ11):c.*1220G>A rs1457465996 0.00001
NM_000525.4(KCNJ11):c.*1562A>G rs886048031 0.00001
NM_000525.4(KCNJ11):c.*701A>T rs5207 0.00001
NM_000525.4(KCNJ11):c.-37C>T rs753392628 0.00001
NM_000525.4(KCNJ11):c.-515G>A rs886048044 0.00001
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro) rs797045635 0.00001
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=) rs1450567888 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000528.4(MAN2B1):c.-19A>G rs886054234 0.00001
NM_000528.4(MAN2B1):c.1026+8C>T rs199908179 0.00001
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586 0.00001
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys) rs772742355 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=) rs775212002 0.00001
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=) rs2023694204 0.00001
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr) rs750137512 0.00001
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797 0.00001
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=) rs886054232 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NM_000545.8(HNF1A):c.-4A>G rs561269721 0.00001
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=) rs762669462 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000642.3(AGL):c.*1047A>T rs886044930 0.00001
NM_000642.3(AGL):c.*1860G>T rs1433664193 0.00001
NM_000642.3(AGL):c.*1971T>C rs139068984 0.00001
NM_000642.3(AGL):c.*229A>G rs979215337 0.00001
NM_000642.3(AGL):c.*257C>A rs1355749991 0.00001
NM_000642.3(AGL):c.*680T>A rs886044928 0.00001
NM_000642.3(AGL):c.*682A>G rs1177397896 0.00001
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573 0.00001
NM_000642.3(AGL):c.1284-12A>C rs886044918 0.00001
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.2905T>C (p.Tyr969His) rs1336583652 0.00001
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398 0.00001
NM_000642.3(AGL):c.367C>G (p.Pro123Ala) rs372709840 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922 0.00001
NM_000642.3(AGL):c.515G>C (p.Cys172Ser) rs766234642 0.00001
NM_000642.3(AGL):c.818C>G (p.Ala273Gly) rs943273443 0.00001
NM_000642.3(AGL):c.958+12A>G rs1227779911 0.00001
NM_000891.3(KCNJ2):c.*1030C>T rs1310873825 0.00001
NM_000891.3(KCNJ2):c.*1361C>A rs1191660760 0.00001
NM_000891.3(KCNJ2):c.*1412G>A rs886053331 0.00001
NM_000891.3(KCNJ2):c.*3025G>A rs536788614 0.00001
NM_000891.3(KCNJ2):c.*3352T>A rs886053345 0.00001
NM_000891.3(KCNJ2):c.*39C>T rs1196218333 0.00001
NM_000891.3(KCNJ2):c.*572G>T rs566129544 0.00001
NM_000891.3(KCNJ2):c.*687A>C rs886053329 0.00001
NM_000891.3(KCNJ2):c.-361G>C rs984704301 0.00001
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg) rs760459401 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) rs529080615 0.00001
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) rs376921497 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_000925.4(PDHB):c.*199T>G rs886058777 0.00001
NM_000925.4(PDHB):c.*365T>A rs1023863848 0.00001
NM_000925.4(PDHB):c.*77C>T rs766780930 0.00001
NM_000925.4(PDHB):c.-12G>A rs758352130 0.00001
NM_000925.4(PDHB):c.1069T>C (p.Leu357=) rs768436316 0.00001
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912 0.00001
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln) rs772939767 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_001008216.2(GALE):c.-77+168T>G rs924261949 0.00001
NM_001008216.2(GALE):c.192G>A (p.Glu64=) rs748354696 0.00001
NM_001008216.2(GALE):c.238-6C>T rs751079525 0.00001
NM_001008216.2(GALE):c.648G>A (p.Ala216=) rs144723215 0.00001
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg) rs752384408 0.00001
NM_001039770.3(TMPPE):c.-523G>C rs529551028 0.00001
NM_001040716.2(PC):c.*161C>T rs886048554 0.00001
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn) rs371922891 0.00001
NM_001040716.2(PC):c.3148-14C>T rs773784306 0.00001
NM_001040716.2(PC):c.3364G>C (p.Asp1122His) rs745961257 0.00001
NM_001040716.2(PC):c.64G>A (p.Ala22Thr) rs767170503 0.00001
NM_001040716.2(PC):c.78C>A (p.Ser26=) rs1161512784 0.00001
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650 0.00001
NM_001041.4(SI):c.1147-6T>A rs146539849 0.00001
NM_001041.4(SI):c.118+11C>T rs767898820 0.00001
NM_001041.4(SI):c.1278+11A>G rs756042084 0.00001
NM_001041.4(SI):c.1796C>T (p.Ala599Val) rs747388124 0.00001
NM_001041.4(SI):c.2510C>T (p.Thr837Ile) rs755263405 0.00001
NM_001041.4(SI):c.2681A>G (p.Glu894Gly) rs756233137 0.00001
NM_001041.4(SI):c.2738T>C (p.Val913Ala) rs1712193715 0.00001
NM_001041.4(SI):c.2985A>G (p.Ile995Met) rs766550125 0.00001
NM_001041.4(SI):c.315G>T (p.Trp105Cys) rs138564183 0.00001
NM_001041.4(SI):c.3309G>A (p.Ser1103=) rs765589827 0.00001
NM_001041.4(SI):c.3423+11A>G rs770815174 0.00001
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr) rs761717351 0.00001
NM_001041.4(SI):c.5304G>A (p.Arg1768=) rs772347173 0.00001
NM_001041.4(SI):c.59T>A (p.Val20Asp) rs771580575 0.00001
NM_001041.4(SI):c.611T>C (p.Ile204Thr) rs377040463 0.00001
NM_001041.4(SI):c.952G>A (p.Gly318Ser) rs749095854 0.00001
NM_001041.4(SI):c.963G>A (p.Leu321=) rs562469691 0.00001
NM_001164277.2(SLC37A4):c.*138C>T rs867580827 0.00001
NM_001164277.2(SLC37A4):c.*283T>C rs886047746 0.00001
NM_001164277.2(SLC37A4):c.*338T>C rs1014083666 0.00001
NM_001164277.2(SLC37A4):c.-279C>T rs886047752 0.00001
NM_001164277.2(SLC37A4):c.-50T>G rs886047750 0.00001
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) rs121908976 0.00001
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=) rs776272750 0.00001
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys) rs193302889 0.00001
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr) rs886051894 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001352514.2(HLCS):c.*1766G>A rs537534748 0.00001
NM_001352514.2(HLCS):c.*2434G>T rs886057062 0.00001
NM_001352514.2(HLCS):c.*2700C>T rs140135359 0.00001
NM_001352514.2(HLCS):c.*2847G>A rs1269300334 0.00001
NM_001352514.2(HLCS):c.*3043A>G rs539444862 0.00001
NM_001352514.2(HLCS):c.*3209C>T rs886057059 0.00001
NM_001352514.2(HLCS):c.*448G>C rs772947158 0.00001
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala) rs1259711297 0.00001
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln) rs886057076 0.00001
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile) rs144116568 0.00001
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=) rs745670538 0.00001
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys) rs148981273 0.00001
NM_001352514.2(HLCS):c.500A>G (p.His167Arg) rs577182758 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001360016.2(G6PD):c.*535G>T rs1057515820 0.00001
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) rs78365220 0.00001
NM_001360016.2(G6PD):c.485+13G>A rs781898381 0.00001
NM_001360016.2(G6PD):c.645-12C>T rs1020037412 0.00001
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001370658.1(BTD):c.*57T>A rs886058118 0.00001
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115 0.00001
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909 0.00001
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164 0.00001
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101 0.00001
NM_001715.2(BLK):c.-267C>T rs886062591 0.00001
NM_001715.2(BLK):c.-375G>A rs886062590 0.00001
NM_001715.2(BLK):c.-484G>A rs761744676 0.00001
NM_001715.3(BLK):c.*366G>A rs977140703 0.00001
NM_001715.3(BLK):c.*461G>A rs1204192053 0.00001
NM_001715.3(BLK):c.1046C>T (p.Ala349Val) rs759976637 0.00001
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) rs142803179 0.00001
NM_001715.3(BLK):c.1252G>A (p.Val418Met) rs373565757 0.00001
NM_001715.3(BLK):c.1308C>T (p.Tyr436=) rs886062596 0.00001
NM_001715.3(BLK):c.677A>C (p.Gln226Pro) rs551088779 0.00001
NM_001715.3(BLK):c.892C>T (p.Arg298Ter) rs745877998 0.00001
NM_002076.3(GNS):c.-161T>C rs769119181 0.00001
NM_002076.4(GNS):c.*1435G>A rs547333907 0.00001
NM_002076.4(GNS):c.*2571T>C rs995044057 0.00001
NM_002076.4(GNS):c.*2699G>C rs867153534 0.00001
NM_002076.4(GNS):c.*334C>T rs886049771 0.00001
NM_002076.4(GNS):c.*764G>A rs886049767 0.00001
NM_002076.4(GNS):c.*826G>A rs886049766 0.00001
NM_002076.4(GNS):c.*86A>T rs1868866389 0.00001
NM_002076.4(GNS):c.*985A>G rs531715804 0.00001
NM_002076.4(GNS):c.-83G>C rs1290374156 0.00001
NM_002076.4(GNS):c.1104G>T (p.Leu368=) rs766168524 0.00001
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys) rs1177531995 0.00001
NM_002076.4(GNS):c.1616G>A (p.Arg539His) rs766615352 0.00001
NM_002076.4(GNS):c.337A>G (p.Thr113Ala) rs886049772 0.00001
NM_002076.4(GNS):c.73G>A (p.Ala25Thr) rs540537083 0.00001
NM_002103.5(GYS1):c.*110G>A rs1008518917 0.00001
NM_002103.5(GYS1):c.*413G>A rs1296511627 0.00001
NM_002103.5(GYS1):c.*472G>A rs886054566 0.00001
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) rs751121252 0.00001
NM_002103.5(GYS1):c.1169+13C>T rs775362871 0.00001
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met) rs748765779 0.00001
NM_002103.5(GYS1):c.1242C>T (p.Pro414=) rs751382433 0.00001
NM_002103.5(GYS1):c.1308+5G>A rs779587345 0.00001
NM_002103.5(GYS1):c.1810-14C>T rs2038529046 0.00001
NM_002103.5(GYS1):c.1872G>A (p.Glu624=) rs1421512196 0.00001
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu) rs886054569 0.00001
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp) rs886054568 0.00001
NM_002103.5(GYS1):c.216C>T (p.Gly72=) rs773065230 0.00001
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly) rs2038838431 0.00001
NM_002103.5(GYS1):c.942-9G>A rs762629200 0.00001
NM_002294.3(LAMP2):c.*238G>A rs2058520973 0.00001
NM_002294.3(LAMP2):c.*3276C>T rs1043524915 0.00001
NM_002299.4(LCT):c.*275A>G rs1008625417 0.00001
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser) rs1428765941 0.00001
NM_002299.4(LCT):c.1116G>A (p.Ala372=) rs200277615 0.00001
NM_002299.4(LCT):c.1902C>T (p.Pro634=) rs202014246 0.00001
NM_002299.4(LCT):c.1931C>T (p.Thr644Ile) rs546741050 0.00001
NM_002299.4(LCT):c.2177G>A (p.Arg726His) rs886054866 0.00001
NM_002299.4(LCT):c.280G>A (p.Ala94Thr) rs139740186 0.00001
NM_002299.4(LCT):c.319G>A (p.Glu107Lys) rs761296720 0.00001
NM_002299.4(LCT):c.3483C>T (p.Asn1161=) rs143927262 0.00001
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) rs148317168 0.00001
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala) rs557029000 0.00001
NM_002299.4(LCT):c.5529C>T (p.Pro1843=) rs761696901 0.00001
NM_002299.4(LCT):c.5655C>T (p.Tyr1885=) rs1483785677 0.00001
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) rs886054861 0.00001
NM_002299.4(LCT):c.643G>A (p.Gly215Arg) rs886054869 0.00001
NM_002299.4(LCT):c.677T>C (p.Ile226Thr) rs747805112 0.00001
NM_002300.8(LDHB):c.129+11A>G rs886049166 0.00001
NM_002300.8(LDHB):c.421+7T>C rs375249355 0.00001
NM_002300.8(LDHB):c.422-10A>G rs886049165 0.00001
NM_002300.8(LDHB):c.727A>G (p.Ile243Val) rs750220072 0.00001
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala) rs200158121 0.00001
NM_002500.4(NEUROD1):c.*1583T>C rs1035423254 0.00001
NM_002500.4(NEUROD1):c.-102G>A rs886055328 0.00001
NM_002500.5(NEUROD1):c.*370_*371insT rs886055326 0.00001
NM_002500.5(NEUROD1):c.*6C>A rs576676213 0.00001
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp) rs774325551 0.00001
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys) rs763871039 0.00001
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val) rs369575066 0.00001
NM_002500.5(NEUROD1):c.473G>A (p.Arg158His) rs1422349580 0.00001
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys) rs1284904822 0.00001
NM_002591.4(PCK1):c.*528C>G rs886056803 0.00001
NM_002591.4(PCK1):c.407-11G>A rs775923881 0.00001
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys) rs782491605 0.00001
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile) rs782651487 0.00001
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=) rs369728544 0.00001
NM_002637.4(PHKA1):c.2370-14C>T rs782784720 0.00001
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln) rs782702439 0.00001
NM_002863.5(PYGL):c.-29A>C rs538311514 0.00001
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu) rs143571464 0.00001
NM_002863.5(PYGL):c.2380-15A>G rs886050537 0.00001
NM_002863.5(PYGL):c.2481C>T (p.Asn827=) rs755274555 0.00001
NM_002863.5(PYGL):c.704T>C (p.Met235Thr) rs200920293 0.00001
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala) rs774143179 0.00001
NM_003041.4(SLC5A2):c.1021+14C>T rs1349979357 0.00001
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala) rs534057160 0.00001
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=) rs761863294 0.00001
NM_003041.4(SLC5A2):c.1449+13C>A rs769589113 0.00001
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=) rs767926604 0.00001
NM_003041.4(SLC5A2):c.1792+12T>C rs886051963 0.00001
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser) rs201073991 0.00001
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=) rs755803144 0.00001
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=) rs557690622 0.00001
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) rs775638719 0.00001
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960 0.00001
NM_003051.4(SLC16A1):c.*1018T>G rs774371594 0.00001
NM_003051.4(SLC16A1):c.*1134G>A rs778106916 0.00001
NM_003051.4(SLC16A1):c.*137A>T rs1223206132 0.00001
NM_003051.4(SLC16A1):c.*815G>A rs556305447 0.00001
NM_003051.4(SLC16A1):c.-163T>C rs886045088 0.00001
NM_003051.4(SLC16A1):c.-87C>T rs886045087 0.00001
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr) rs756006376 0.00001
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=) rs17852382 0.00001
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser) rs1461742764 0.00001
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=) rs775755027 0.00001
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) rs549501840 0.00001
NM_003384.3(VRK1):c.*281G>A rs1889257279 0.00001
NM_003384.3(VRK1):c.*302T>C rs1294884447 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_003477.3(PDHX):c.*742C>T rs577566893 0.00001
NM_003477.3(PDHX):c.-7C>T rs751680964 0.00001
NM_003477.3(PDHX):c.1164A>G (p.Glu388=) rs766725349 0.00001
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala) rs748511132 0.00001
NM_003597.5(KLF11):c.*131G>A rs545836068 0.00001
NM_003597.5(KLF11):c.*1463A>G rs1572448681 0.00001
NM_003597.5(KLF11):c.*1636C>T rs886054735 0.00001
NM_003597.5(KLF11):c.*1725G>C rs374263399 0.00001
NM_003597.5(KLF11):c.*192T>C rs552960564 0.00001
NM_003597.5(KLF11):c.*2103G>A rs1056465665 0.00001
NM_003597.5(KLF11):c.-31G>A rs886054721 0.00001
NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu) rs886054723 0.00001
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu) rs775364750 0.00001
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr) rs868399686 0.00001
NM_003597.5(KLF11):c.18C>T (p.Phe6=) rs886054722 0.00001
NM_003597.5(KLF11):c.259A>G (p.Met87Val) rs757905542 0.00001
NM_003597.5(KLF11):c.25C>T (p.Pro9Ser) rs1377863567 0.00001
NM_003597.5(KLF11):c.501C>T (p.Pro167=) rs377399356 0.00001
NM_003597.5(KLF11):c.928T>C (p.Ser310Pro) rs759266535 0.00001
NM_003619.4(PRSS12):c.*1435A>G rs1247361243 0.00001
NM_003619.4(PRSS12):c.*1499A>G rs748542086 0.00001
NM_003619.4(PRSS12):c.*658C>T rs549172615 0.00001
NM_003619.4(PRSS12):c.*904A>T rs1025703450 0.00001
NM_003619.4(PRSS12):c.-10C>T rs559605488 0.00001
NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys) rs139059047 0.00001
NM_003619.4(PRSS12):c.1293-10A>G rs374374471 0.00001
NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu) rs937952328 0.00001
NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe) rs377739049 0.00001
NM_003619.4(PRSS12):c.315C>T (p.Phe105=) rs776809807 0.00001
NM_003619.4(PRSS12):c.518G>A (p.Arg173His) rs764862487 0.00001
NM_003619.4(PRSS12):c.821-12C>G rs373973695 0.00001
NM_005271.5(GLUD1):c.*1181C>A rs542298445 0.00001
NM_005271.5(GLUD1):c.*1436G>A rs886047369 0.00001
NM_005271.5(GLUD1):c.*469C>A rs566474794 0.00001
NM_005271.5(GLUD1):c.*496G>A rs886047372 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005327.4(HADH):c.-86G>T rs528952923 0.00001
NM_005327.7(HADH):c.*279C>A rs1290272212 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.-36C>T rs746854470 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005327.7(HADH):c.823G>A (p.Asp275Asn) rs150766162 0.00001
NM_005566.4(LDHA):c.*175C>T rs886048089 0.00001
NM_005566.4(LDHA):c.*228G>A rs1341687956 0.00001
NM_005566.4(LDHA):c.*253G>A rs758268446 0.00001
NM_005566.4(LDHA):c.*312G>A rs200982215 0.00001
NM_005566.4(LDHA):c.*706G>A rs757942016 0.00001
NM_005566.4(LDHA):c.*914A>G rs147174554 0.00001
NM_005566.4(LDHA):c.222A>G (p.Thr74=) rs201254300 0.00001
NM_005566.4(LDHA):c.285G>A (p.Thr95=) rs202160072 0.00001
NM_005566.4(LDHA):c.30T>C (p.Tyr10=) rs768444502 0.00001
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly) rs1264619847 0.00001
NM_005609.3(PYGM):c.-234C>T rs886048466 0.00001
NM_005609.4(PYGM):c.*80G>A rs1245399507 0.00001
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732 0.00001
NM_005609.4(PYGM):c.1092+15C>T rs1319046232 0.00001
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1748A>G (p.His583Arg) rs760543538 0.00001
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072 0.00001
NM_005609.4(PYGM):c.2322C>T (p.Val774=) rs1045215677 0.00001
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879 0.00001
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met) rs377401213 0.00001
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643 0.00001
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286 0.00001
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681 0.00001
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu) rs773595572 0.00001
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) rs886048463 0.00001
NM_005908.4(MANBA):c.*184A>G rs886058967 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_005908.4(MANBA):c.1112+8A>C rs752741187 0.00001
NM_005908.4(MANBA):c.111G>T (p.Ser37=) rs927918838 0.00001
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) rs561172083 0.00001
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala) rs778853902 0.00001
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) rs1730293546 0.00001
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) rs180816849 0.00001
NM_006488.3(KHK):c.*52C>T rs747976594 0.00001
NM_006488.3(KHK):c.*791G>A rs886055894 0.00001
NM_006488.3(KHK):c.*810A>C rs543665606 0.00001
NM_006488.3(KHK):c.101C>A (p.Ser34Tyr) rs746381366 0.00001
NM_006488.3(KHK):c.210-200A>G rs1482514899 0.00001
NM_006488.3(KHK):c.463G>A (p.Ala155Thr) rs776211460 0.00001
NM_006488.3(KHK):c.499C>T (p.Arg167Trp) rs886055887 0.00001
NM_006488.3(KHK):c.818G>A (p.Ser273Asn) rs575951862 0.00001
NM_006488.3(KHK):c.866G>A (p.Cys289Tyr) rs201037118 0.00001
NM_006516.2(SLC2A1):c.-272G>A rs886046344 0.00001
NM_006516.4(SLC2A1):c.*107G>A rs1643432524 0.00001
NM_006516.4(SLC2A1):c.*1205C>T rs886046331 0.00001
NM_006516.4(SLC2A1):c.*1321T>A rs1222650517 0.00001
NM_006516.4(SLC2A1):c.*775A>G rs779010320 0.00001
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=) rs748983257 0.00001
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val) rs1399284513 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_006569.6(CGREF1):c.*628A>C rs1276594858 0.00001
NM_006721.4(ADK):c.*114T>C rs560409958 0.00001
NM_006721.4(ADK):c.*729T>G rs1307744498 0.00001
NM_006721.4(ADK):c.220A>G (p.Lys74Glu) rs201786575 0.00001
NM_006721.4(ADK):c.66-24009G>T rs886047234 0.00001
NM_006721.4(ADK):c.66-24289G>A rs571962706 0.00001
NM_006721.4(ADK):c.763-9T>C rs780824505 0.00001
NM_006755.1(TALDO1):c.-37T>C rs886048655 0.00001
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) rs758756190 0.00001
NM_006755.2(TALDO1):c.402C>T (p.Ile134=) rs886048663 0.00001
NM_006755.2(TALDO1):c.480C>T (p.His160=) rs200500899 0.00001
NM_006755.2(TALDO1):c.48C>T (p.Asp16=) rs886048658 0.00001
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu) rs1823271331 0.00001
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu) rs770585067 0.00001
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr) rs758049256 0.00001
NM_012434.5(SLC17A5):c.*1206G>A rs1239251189 0.00001
NM_012434.5(SLC17A5):c.*1450G>A rs886061727 0.00001
NM_012434.5(SLC17A5):c.*478C>T rs886061733 0.00001
NM_012434.5(SLC17A5):c.*488G>A rs1216079110 0.00001
NM_012434.5(SLC17A5):c.*587C>T rs1303568875 0.00001
NM_012434.5(SLC17A5):c.*817G>A rs886061731 0.00001
NM_012434.5(SLC17A5):c.*837C>T rs886061730 0.00001
NM_012434.5(SLC17A5):c.*901C>T rs886061729 0.00001
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=) rs374241516 0.00001
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=) rs924683894 0.00001
NM_015957.4(APIP):c.-1C>T rs774565620 0.00001
NM_016042.4(EXOSC3):c.*312T>G rs1044154281 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016203.4(PRKAG2):c.186+7C>T rs886062102 0.00001
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016219.5(MAN1B1):c.*389C>G rs1489403973 0.00001
NM_016219.5(MAN1B1):c.*404T>C rs759863657 0.00001
NM_016219.5(MAN1B1):c.*587C>G rs946716926 0.00001
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.41C>T (p.Ser14Phe) rs776658507 0.00001
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala) rs763520482 0.00001
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=) rs1430903884 0.00001
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=) rs151136979 0.00001
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser) rs573766677 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp) rs777884272 0.00001
NM_017755.6(NSUN2):c.*85G>A rs1429279900 0.00001
NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg) rs375923267 0.00001
NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter) rs886060728 0.00001
NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly) rs373663619 0.00001
NM_020897.3(HCN3):c.*1330G>T rs886045348 0.00001
NM_020897.3(HCN3):c.*832C>T rs917244300 0.00001
NM_021957.4(GYS2):c.*408A>G rs1180052815 0.00001
NM_021957.4(GYS2):c.*520A>G rs886049153 0.00001
NM_021957.4(GYS2):c.-109G>A rs1424660561 0.00001
NM_021957.4(GYS2):c.1230-5T>G rs777032042 0.00001
NM_021957.4(GYS2):c.1423-1G>A rs202043849 0.00001
NM_021957.4(GYS2):c.154G>A (p.Ala52Thr) rs886049162 0.00001
NM_021957.4(GYS2):c.1974dup (p.Val659fs) rs1181756742 0.00001
NM_021957.4(GYS2):c.534A>G (p.Gln178=) rs750100480 0.00001
NM_021957.4(GYS2):c.612C>A (p.Thr204=) rs758427436 0.00001
NM_021957.4(GYS2):c.942-7del rs537907545 0.00001
NM_021957.4(GYS2):c.948C>T (p.Leu316=) rs374841625 0.00001
NM_022042.4(SLC26A1):c.*876C>T rs546988577 0.00001
NM_022895.3(C12orf43):c.*1871A>G rs1045819255 0.00001
NM_033159.4(HYAL1):c.-5G>A rs368638384 0.00001
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) rs781838448 0.00001
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys) rs104893743 0.00001
NM_053013.4(ENO3):c.363G>A (p.Ala121=) rs201872558 0.00001
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg) rs886053166 0.00001
NM_080749.4(NEURL2):c.-101G>C rs558829056 0.00001
NM_080749.4(NEURL2):c.-98del rs886056711 0.00001
NM_138413.4(HOGA1):c.-224G>A rs1176162564 0.00001
NM_138413.4(HOGA1):c.212-6T>C rs372066473 0.00001
NM_138413.4(HOGA1):c.834+1G>T rs749315029 0.00001
NM_138413.4(HOGA1):c.933C>T (p.Pro311=) rs561984280 0.00001
NM_144563.3(RPIA):c.*728T>C rs1006392866 0.00001
NM_144563.3(RPIA):c.443A>G (p.Asp148Gly) rs773038072 0.00001
NM_144563.3(RPIA):c.55C>A (p.Pro19Thr) rs756750653 0.00001
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg) rs559380161 0.00001
NM_144563.3(RPIA):c.790C>T (p.Arg264Trp) rs201938367 0.00001
NM_152419.3(HGSNAT):c.*160C>T rs886062955 0.00001
NM_152419.3(HGSNAT):c.*1841G>A rs886062962 0.00001
NM_152419.3(HGSNAT):c.*2305A>G rs886062963 0.00001
NM_152419.3(HGSNAT):c.*2756G>A rs564747354 0.00001
NM_152419.3(HGSNAT):c.*2801C>G rs886062964 0.00001
NM_152419.3(HGSNAT):c.*2967C>T rs549454910 0.00001
NM_152419.3(HGSNAT):c.*3241A>G rs886062966 0.00001
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=) rs886062953 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152419.3(HGSNAT):c.563+3A>G rs753027018 0.00001
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=) rs1355715592 0.00001
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala) rs758464800 0.00001
NM_175914.5(HNF4A):c.*2511A>G rs1277613130 0.00001
NM_175914.5(HNF4A):c.*2558T>C rs886056688 0.00001
NM_175914.5(HNF4A):c.*2639T>G rs886056690 0.00001
NM_175914.5(HNF4A):c.*3120T>C rs886056704 0.00001
NM_175914.5(HNF4A):c.*765G>A rs886056681 0.00001
NM_175914.5(HNF4A):c.*782G>A rs886056682 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly) rs779555087 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_175914.5(HNF4A):c.723G>C (p.Arg241=) rs372639360 0.00001
NM_198586.3(NHLRC1):c.*537T>C rs935643502 0.00001
NM_198586.3(NHLRC1):c.*61C>A rs886061252 0.00001
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582 0.00001
NM_000027.3(AGA):c.-127_-123delGGGAC rs886059265
NM_000027.4(AGA):c.*13G>C rs1736640377
NM_000027.4(AGA):c.*35G>C rs767154296
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*819CT[2] rs146345347
NM_000027.4(AGA):c.*851G>A rs186184411
NM_000027.4(AGA):c.*856C>G rs1736607561
NM_000027.4(AGA):c.*915G>A rs745380599
NM_000027.4(AGA):c.248G>A (p.Gly83Glu) rs903884327
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.449C>T (p.Ala150Val) rs1202403932
NM_000027.4(AGA):c.535T>C (p.Cys179Arg) rs1187962299
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*194A>T rs2059043450
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.-24C>G rs192950967
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp) rs2059038329
NM_000030.3(AGXT):c.1065G>C (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu) rs761756536
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu) rs528938116
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) rs200317876
NM_000035.4(ALDOB):c.*145A>G rs552865615
NM_000035.4(ALDOB):c.*150del rs200345626
NM_000035.4(ALDOB):c.*26C>T rs1831050459
NM_000035.4(ALDOB):c.*289C>G rs886063290
NM_000035.4(ALDOB):c.*683T>C rs1831039987
NM_000035.4(ALDOB):c.*714A>G rs886063289
NM_000035.4(ALDOB):c.*729G>C rs1831039466
NM_000035.4(ALDOB):c.*802A>G rs886063288
NM_000035.4(ALDOB):c.113-7A>C rs1588172399
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn) rs752810910
NM_000035.4(ALDOB):c.486C>G (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.529A>G (p.Ile177Val) rs139442303
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn) rs371219301
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000046.3(ARSB):c.-1015A>G rs886060801
NM_000046.3(ARSB):c.-855dup rs574333268
NM_000046.4(ARSB):c.-112G>C rs886060798
NM_000046.4(ARSB):c.-276T>C rs534158632
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.4(ARSB):c.-410_-407delCTAA rs151289643
NM_000046.5(ARSB):c.*1147G>A rs886060792
NM_000046.5(ARSB):c.*1276C>G rs886060790
NM_000046.5(ARSB):c.*1286C>T rs886060789
NM_000046.5(ARSB):c.*1360T>A rs886060788
NM_000046.5(ARSB):c.*1372dup rs551749278
NM_000046.5(ARSB):c.*1387C>T rs555581069
NM_000046.5(ARSB):c.*1499C>G rs886060787
NM_000046.5(ARSB):c.*1539dup rs886060785
NM_000046.5(ARSB):c.*1899dup rs886060784
NM_000046.5(ARSB):c.*1989C>T rs878926507
NM_000046.5(ARSB):c.*2080G>A rs886060783
NM_000046.5(ARSB):c.*2092A>T rs1748827572
NM_000046.5(ARSB):c.*2155C>T rs1748825888
NM_000046.5(ARSB):c.*2158C>T rs1463642631
NM_000046.5(ARSB):c.*2524A>T rs868066675
NM_000046.5(ARSB):c.*2525A>T rs867923783
NM_000046.5(ARSB):c.*2543_*2545dup rs397976147
NM_000046.5(ARSB):c.*2578A>T rs548093605
NM_000046.5(ARSB):c.*2593T>G rs1748811214
NM_000046.5(ARSB):c.*2637_*2639dup rs886060781
NM_000046.5(ARSB):c.*2975G>T rs3088247
NM_000046.5(ARSB):c.*3147G>A rs1425606069
NM_000046.5(ARSB):c.*3174T>G rs886060777
NM_000046.5(ARSB):c.*3181T>A rs11750774
NM_000046.5(ARSB):c.*340A>C rs1234619423
NM_000046.5(ARSB):c.*420A>G rs1748876744
NM_000046.5(ARSB):c.*608G>A rs886060796
NM_000046.5(ARSB):c.*619G>T rs886060795
NM_000046.5(ARSB):c.*793T>A rs886060794
NM_000046.5(ARSB):c.*922C>T rs201284766
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu) rs200793396
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000046.5(ARSB):c.347C>A (p.Pro116His) rs775780931
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339
NM_000108.5(DLD):c.*1027T>G rs372098056
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1231A>G rs2032385167
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*374G>T rs576270082
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415
NM_000147.5(FUCA1):c.*286C>A rs886046324
NM_000147.5(FUCA1):c.*438_*442del rs886046323
NM_000147.5(FUCA1):c.*544T>A rs886046321
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu) rs1393793214
NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly) rs886046325
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu) rs1639658693
NM_000147.5(FUCA1):c.389+15G>C rs1395597191
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp) rs1639606764
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.489T>C (p.Asp163=) rs1639604269
NM_000147.5(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000151.4(G6PC1):c.*1227dup rs397735497
NM_000151.4(G6PC1):c.*1458C>T rs2056105397
NM_000151.4(G6PC1):c.*1466T>C rs2056105442
NM_000151.4(G6PC1):c.*1514G>A rs111309126
NM_000151.4(G6PC1):c.*1527C>T rs966575521
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1] rs397717945
NM_000151.4(G6PC1):c.*1550G>T rs1324359967
NM_000151.4(G6PC1):c.*1552A>T rs138968865
NM_000151.4(G6PC1):c.*1640G>T rs556943624
NM_000151.4(G6PC1):c.*1901A>G rs2056108046
NM_000151.4(G6PC1):c.*2081T>A rs2056108904
NM_000151.4(G6PC1):c.*2501C>G rs886052964
NM_000151.4(G6PC1):c.*2519G>T rs886052965
NM_000151.4(G6PC1):c.*251C>T rs753206089
NM_000151.4(G6PC1):c.*2611C>T rs186556135
NM_000151.4(G6PC1):c.*2687del rs113390675
NM_000151.4(G6PC1):c.*2857C>T rs2056113291
NM_000151.4(G6PC1):c.*286A>G rs886052959
NM_000151.4(G6PC1):c.*2980A>G rs2056113916
NM_000151.4(G6PC1):c.*492A>C rs532485841
NM_000151.4(G6PC1):c.*703G>A rs375295552
NM_000151.4(G6PC1):c.*714A>G rs886052961
NM_000151.4(G6PC1):c.*887T>C rs2056101326
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn) rs746978011
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile) rs145749644
NM_000151.4(G6PC1):c.230+11T>C rs756151664
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs) rs80356488
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala) rs1597991619
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC1):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000152.5(GAA):c.*128T>C rs886053549
NM_000152.5(GAA):c.*219G>A rs1216535924
NM_000152.5(GAA):c.*309C>T rs886053550
NM_000152.5(GAA):c.*313C>G rs926145648
NM_000152.5(GAA):c.*82C>T rs745999686
NM_000152.5(GAA):c.-325C>T rs1402918119
NM_000152.5(GAA):c.-75C>G rs80020206
NM_000152.5(GAA):c.1076-15G>C rs370414054
NM_000152.5(GAA):c.1320G>C (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro) rs2039195201
NM_000152.5(GAA):c.1638G>A (p.Gly546=) rs1260256483
NM_000152.5(GAA):c.1734C>T (p.Thr578=) rs149384771
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu) rs2039279293
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) rs886053546
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2790C>T (p.Pro930=) rs2039418269
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.310G>C (p.Glu104Gln) rs201902338
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000154.2(GALK1):c.-27A>C rs767223937
NM_000154.2(GALK1):c.396A>G (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000155.3(GALT):c.-38G>A rs886063883
NM_000155.4(GALT):c.*138C>T rs1821232966
NM_000155.4(GALT):c.*18C>G rs771618527
NM_000155.4(GALT):c.*96A>C rs967576667
NM_000155.4(GALT):c.409G>A (p.Val137Ile) rs1821146618
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.535G>C (p.Gly179Arg)
NM_000155.4(GALT):c.936C>G (p.Asn312Lys) rs771975129
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000158.3(GBE1):c.-195G>T rs886058904
NM_000158.4(GBE1):c.*388T>A rs1702416693
NM_000158.4(GBE1):c.*44T>A rs1702420526
NM_000158.4(GBE1):c.*494A>C rs145934828
NM_000158.4(GBE1):c.*494A>T rs145934828
NM_000158.4(GBE1):c.*523T>A rs113749146
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly) rs1703917500
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala) rs771241994
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile) rs1703085718
NM_000158.4(GBE1):c.1842T>A (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) rs886058901
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser) rs1350258947
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly) rs1553684545
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-102G>C rs781377703
NM_000162.5(GCK):c.-137C>G rs2096324530
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000162.5(GCK):c.-396C>G rs2096324894
NM_000162.5(GCK):c.-456G>A rs757266656
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) rs1415041911
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) rs1257648811
NM_000162.5(GCK):c.363+10G>C rs758495950
NM_000162.5(GCK):c.675C>T (p.Ile225=) rs772754004
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.792C>A (p.Gly264=) rs754094813
NM_000181.4(GUSB):c.*12A>G rs769514976
NM_000181.4(GUSB):c.*148A>G rs568655640
NM_000181.4(GUSB):c.*154G>A rs1790427973
NM_000181.4(GUSB):c.*208T>C rs190201470
NM_000181.4(GUSB):c.*208T>G rs190201470
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala) rs1355624664
NM_000181.4(GUSB):c.1245-4G>T rs548368848
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro) rs1790444883
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.531C>A (p.Thr177=) rs1392513223
NM_000199.5(SGSH):c.*1008C>T rs886053553
NM_000199.5(SGSH):c.*1078A>G rs886053552
NM_000199.5(SGSH):c.*452G>A rs886053556
NM_000199.5(SGSH):c.*69C>T rs576879796
NM_000199.5(SGSH):c.*712G>T rs1360057013
NM_000199.5(SGSH):c.*891A>G rs903251344
NM_000199.5(SGSH):c.*95A>T rs2041585066
NM_000199.5(SGSH):c.*978C>T rs886053554
NM_000199.5(SGSH):c.-12G>A rs1598772757
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn) rs886053558
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser) rs780969693
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu) rs1281022554
NM_000199.5(SGSH):c.506+13G>T rs201177560
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.658G>C (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.745+1G>C rs748525651
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly) rs1314742501
NM_000199.5(SGSH):c.89-18_89-15del rs768357480
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile) rs747197522
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.*100A>G rs1049376214
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro) rs754095810
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) rs886059750
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val) rs1715142270
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.130C>A (p.Arg44=) rs558851990
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1650+12T>C rs1715248390
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1651-7C>A rs934115207
NM_000203.5(IDUA):c.1727+9G>T rs771420258
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His) rs1715312209
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.348G>A (p.Gly116=) rs1715016939
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.493+6C>T rs376738689
NM_000203.5(IDUA):c.494-43C>T
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser) rs1715096263
NM_000203.5(IDUA):c.793-10C>G rs886059754
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.837C>T (p.Val279=) rs758749484
NM_000203.5(IDUA):c.964G>T (p.Val322Leu) rs1433608644
NM_000207.3(INS):c.-18+3C>G rs886048112
NM_000207.3(INS):c.153A>G (p.Thr51=) rs773789432
NM_000207.3(INS):c.187+15C>A rs754089310
NM_000207.3(INS):c.188-3C>A rs886048111
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000207.3(INS):c.72C>A (p.Ala24=) rs539284976
NM_000262.3(NAGA):c.*1090G>A rs886057594
NM_000262.3(NAGA):c.*1299C>T rs886057592
NM_000262.3(NAGA):c.*1484A>G rs1433090840
NM_000262.3(NAGA):c.*1788_*1789del rs10713176
NM_000262.3(NAGA):c.*1789del rs10713176
NM_000262.3(NAGA):c.*1862C>A rs1926176961
NM_000262.3(NAGA):c.*730T>C rs1926239462
NM_000262.3(NAGA):c.*926C>G rs886057595
NM_000262.3(NAGA):c.-306C>A rs886057598
NM_000262.3(NAGA):c.-496G>C rs886057599
NM_000262.3(NAGA):c.-502A>C rs886057600
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.486C>G (p.Pro162=) rs760003063
NM_000263.3(NAGLU):c.-78C>G rs886052951
NM_000263.3(NAGLU):c.-82T>C rs886052950
NM_000263.4(NAGLU):c.*174A>G rs896549130
NM_000263.4(NAGLU):c.*198del rs747726415
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) rs886052952
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile) rs759978970
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) rs1341421909
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser) rs2092930793
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg) rs1240470839
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp) rs1344891508
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000284.4(PDHA1):c.*1013C>A rs1042456
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*1624T>C rs2063283398
NM_000284.4(PDHA1):c.*198G>A rs1003909173
NM_000284.4(PDHA1):c.*525C>G rs778207227
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000289.5(PFKM):c.-176C>T rs886049451
NM_000289.5(PFKM):c.-64C>T rs886049452
NM_000289.6(PFKM):c.*134G>A rs886049456
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000289.6(PFKM):c.*489T>A rs886049457
NM_000289.6(PFKM):c.*503G>T rs747797192
NM_000289.6(PFKM):c.*564G>A rs1951034681
NM_000289.6(PFKM):c.*98G>A rs886049455
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg) rs1950621584
NM_000289.6(PFKM):c.2003del (p.Pro668fs) rs767095759
NM_000289.6(PFKM):c.360C>T (p.Gly120=) rs886049453
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg) rs1191913196
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu) rs528467394
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=) rs376134077
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) rs199869174
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu) rs372452057
NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)
NM_000293.3(PHKB):c.*1007G>A rs1047494618
NM_000293.3(PHKB):c.*1105T>C rs1365256572
NM_000293.3(PHKB):c.*1253A>G rs1974232128
NM_000293.3(PHKB):c.*1262A>C rs886052030
NM_000293.3(PHKB):c.*1753G>A rs7202866
NM_000293.3(PHKB):c.*2104T>C rs886052033
NM_000293.3(PHKB):c.*221C>T rs1974213779
NM_000293.3(PHKB):c.*405G>T rs1597192442
NM_000293.3(PHKB):c.*523T>C rs886052027
NM_000293.3(PHKB):c.1117A>G (p.Met373Val) rs1972067736
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln) rs1372877925
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met) rs1973024428
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr) rs886052022
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val) rs192099645
NM_000293.3(PHKB):c.1964G>A (p.Arg655His) rs756158798
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu) rs1597159344
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg) rs886052020
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg) rs886052023
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys) rs766073838
NM_000293.3(PHKB):c.2832A>G (p.Arg944=) rs1974096940
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile) rs1974189408
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys) rs375008974
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000293.3(PHKB):c.703C>T (p.His235Tyr) rs886052021
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu) rs748242735
NM_000293.3(PHKB):c.716T>C (p.Val239Ala) rs761032231
NM_000294.2(PHKG2):c.-118G>A rs1361898035
NM_000294.2(PHKG2):c.-162C>T rs938838075
NM_000294.3(PHKG2):c.-76G>C rs2053281054
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=) rs747926397
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr) rs886051914
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) rs886051911
NM_000294.3(PHKG2):c.556+11C>G rs2053379816
NM_000294.3(PHKG2):c.928-9C>G rs886051913
NM_000294.3(PHKG2):c.96-7C>G rs898984695
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>G rs8177994
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*356T>C rs1674470980
NM_000298.6(PKLR):c.*500C>T rs1674463281
NM_000298.6(PKLR):c.1117-4C>G rs1572054195
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000298.6(PKLR):c.376-11C>G rs1647538523
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn) rs1220156417
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) rs199824528
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.966-12C>T rs1188767860
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser) rs763964110
NM_000298.6(PKLR):c.972T>C (p.Asp324=) rs8177974
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.358-5T>G rs375266196
NM_000308.4(CTSA):c.54G>C (p.Leu18=) rs181943893
NM_000308.4(CTSA):c.574A>C (p.Met192Leu) rs1987042851
NM_000308.4(CTSA):c.692+3A>G rs786200859
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000340.1(SLC2A2):c.-238A>G rs551728717
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*1164T>C rs886058171
NM_000340.2(SLC2A2):c.*1201T>C rs1219326448
NM_000340.2(SLC2A2):c.*1531A>G rs958370410
NM_000340.2(SLC2A2):c.*254T>G rs910326054
NM_000340.2(SLC2A2):c.*325del rs886058174
NM_000340.2(SLC2A2):c.*607del rs563605045
NM_000340.2(SLC2A2):c.*698T>A rs1715118520
NM_000340.2(SLC2A2):c.*725G>C rs79770697
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*83A>T rs993283861
NM_000340.2(SLC2A2):c.*8del (p.Ter525=) rs573575421
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000340.2(SLC2A2):c.*94del rs886058175
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del) rs772999215
NM_000340.2(SLC2A2):c.15+6G>A rs886058177
NM_000340.2(SLC2A2):c.372-4T>C rs769607196
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=) rs886058176
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090
NM_000343.3(SLC5A1):c.-23G>A rs886057400
NM_000343.4(SLC5A1):c.*1251G>T rs886057411
NM_000343.4(SLC5A1):c.*1346A>G rs886057412
NM_000343.4(SLC5A1):c.*1522T>G rs2094057473
NM_000343.4(SLC5A1):c.*155C>T rs886057405
NM_000343.4(SLC5A1):c.*183G>C rs886057406
NM_000343.4(SLC5A1):c.*1940G>A rs117112619
NM_000343.4(SLC5A1):c.*2352A>T rs2094059162
NM_000343.4(SLC5A1):c.*2411C>G rs2094059315
NM_000343.4(SLC5A1):c.*2612T>C rs2094059794
NM_000343.4(SLC5A1):c.*423dup rs140860103
NM_000343.4(SLC5A1):c.*510G>A rs886057408
NM_000343.4(SLC5A1):c.*715del rs777276040
NM_000343.4(SLC5A1):c.-11dup rs541991193
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr) rs770382788
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter) rs200206252
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg) rs886057402
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys) rs2094032479
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg) rs886057403
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu) rs1334755356
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala) rs2094042528
NM_000343.4(SLC5A1):c.1772-5C>A rs886057404
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser) rs200684333
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000352.6(ABCC8):c.*93T>A rs886048046
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe) rs1956875186
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=) rs1956635063
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=) rs370169777
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val) rs1956631543
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=) rs886048055
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2117-10C>A rs886048053
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.2256-9C>T rs886048052
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=) rs1354438772
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3558-6C>G rs886048050
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=) rs886048049
NM_000352.6(ABCC8):c.3989-3C>G rs1324242791
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.4199-8C>T rs886048048
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4307+13A>C rs886048047
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val) rs1953847411
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=) rs780203284
NM_000352.6(ABCC8):c.580-7C>A rs771196330
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn) rs1957204723
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr) rs1433841842
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val) rs763302648
NM_000365.6(TPI1):c.*134C>A rs782308993
NM_000365.6(TPI1):c.*173G>A rs1191018741
NM_000365.6(TPI1):c.*520T>C rs1944574698
NM_000365.6(TPI1):c.*541dup rs201871949
NM_000365.6(TPI1):c.*542_*544del rs782559646
NM_000365.6(TPI1):c.-29C>T rs181882616
NM_000365.6(TPI1):c.239+8C>A rs782359362
NM_000365.6(TPI1):c.558C>T (p.His186=) rs369241009
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000404.4(GLB1):c.*194C>A rs886058340
NM_000404.4(GLB1):c.*39C>T rs1696328310
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1603C>G (p.His535Asp) rs886058341
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys) rs767916019
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.711C>T (p.Tyr237=) rs757982518
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000434.4(NEU1):c.*210T>A rs13118
NM_000434.4(NEU1):c.*644A>G rs1435821332
NM_000434.4(NEU1):c.*69G>A rs1762424496
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu) rs886061290
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000434.4(NEU1):c.742G>A (p.Gly248Ser) rs373311653
NM_000458.4(HNF1B):c.*409A>G rs2031989734
NM_000458.4(HNF1B):c.*585T>C rs886052889
NM_000458.4(HNF1B):c.*938A>G rs574000398
NM_000458.4(HNF1B):c.-31C>G rs771697321
NM_000458.4(HNF1B):c.-36del rs756559188
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg) rs886052891
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.150T>G (p.Pro50=) rs2034119944
NM_000458.4(HNF1B):c.1654-11T>C rs193922484
NM_000458.4(HNF1B):c.1654-14CT[4] rs886052890
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.309G>C (p.Ala103=) rs1197263675
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.438C>T (p.Asn146=) rs2033930573
NM_000458.4(HNF1B):c.477T>C (p.Pro159=) rs1212716750
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp) rs988279557
NM_000485.3(APRT):c.*178A>G rs4695
NM_000507.4(FBP1):c.*127C>T rs1827636938
NM_000507.4(FBP1):c.*248del rs11351544
NM_000507.4(FBP1):c.-208C>G rs759920853
NM_000507.4(FBP1):c.-54C>A rs1057515690
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe) rs1427047737
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu) rs2297085
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000507.4(FBP1):c.826-15G>T rs148942437
NM_000507.4(FBP1):c.826-7T>C rs1827646865
NM_000507.4(FBP1):c.835C>T (p.Leu279=) rs760291471
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*207G>T rs886052452
NM_000512.5(GALNS):c.*212C>A rs117754023
NM_000512.5(GALNS):c.*261T>G rs915733731
NM_000512.5(GALNS):c.*270T>C rs1909389591
NM_000512.5(GALNS):c.*387T>G rs1909377767
NM_000512.5(GALNS):c.*520C>A rs80125890
NM_000512.5(GALNS):c.*70T>C rs933630786
NM_000512.5(GALNS):c.-10C>G rs781533703
NM_000512.5(GALNS):c.-58C>A rs1244075467
NM_000512.5(GALNS):c.-58C>G rs1244075467
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1410G>A (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.400G>A (p.Val134Ile) rs886052457
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu) rs1298604798
NM_000525.4(KCNJ11):c.*1037G>T rs767140617
NM_000525.4(KCNJ11):c.*1415G>A rs955060881
NM_000525.4(KCNJ11):c.*50G>A rs886048041
NM_000525.4(KCNJ11):c.*62G>A rs5213
NM_000525.4(KCNJ11):c.*678C>T rs886048036
NM_000525.4(KCNJ11):c.*732C>T rs886048035
NM_000525.4(KCNJ11):c.*826_*827dup rs886048034
NM_000525.4(KCNJ11):c.*842C>G rs1591693562
NM_000525.4(KCNJ11):c.*937C>T rs886048033
NM_000525.4(KCNJ11):c.*99C>G rs886048040
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.-424C>T rs1953601577
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=) rs1953591194
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln) rs865963367
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=) rs886048042
NM_000528.4(MAN2B1):c.*100T>G rs886054227
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1110-15C>G rs202085731
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1419+5G>T rs540367946
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met) rs1211189249
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro) rs146725928
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro) rs1387086908
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg) rs1403072896
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=) rs2024162767
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala) rs1877098583
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr) rs1421619915
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala) rs1877313665
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) rs137853239
NM_000545.8(HNF1A):c.1768+11C>T rs886049034
NM_000545.8(HNF1A):c.327-14T>C rs886049033
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter) rs754728827
NM_000545.8(HNF1A):c.60G>C (p.Gly20=) rs1449504165
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257
NM_000642.3(AGL):c.*105T>C rs886044924
NM_000642.3(AGL):c.*1817G>A rs1247253899
NM_000642.3(AGL):c.*1T>A rs1422276999
NM_000642.3(AGL):c.*615A>G rs1655565207
NM_000642.3(AGL):c.*83C>G rs1655526406
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.-82A>G rs1648854148
NM_000642.3(AGL):c.1284-4A>T rs372612377
NM_000642.3(AGL):c.1326A>G (p.Glu442=) rs886044919
NM_000642.3(AGL):c.1794A>G (p.Gly598=) rs1651940013
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg) rs1329252752
NM_000642.3(AGL):c.3589-14T>G rs886044920
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe) rs772976797
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu) rs1655046172
NM_000642.3(AGL):c.4256del (p.Pro1419fs) rs1557792839
NM_000642.3(AGL):c.4348-3dup rs886044921
NM_000642.3(AGL):c.573G>C (p.Lys191Asn) rs781491884
NM_000891.3(KCNJ2):c.*1226C>G rs749246339
NM_000891.3(KCNJ2):c.*1345G>A rs141156477
NM_000891.3(KCNJ2):c.*1449C>T rs2074403807
NM_000891.3(KCNJ2):c.*1631C>G rs886053333
NM_000891.3(KCNJ2):c.*1646T>C rs2074404964
NM_000891.3(KCNJ2):c.*1678dup rs145779709
NM_000891.3(KCNJ2):c.*1702_*1704dup rs1555604193
NM_000891.3(KCNJ2):c.*1702dup rs886053334
NM_000891.3(KCNJ2):c.*1719_*1721dup rs35753731
NM_000891.3(KCNJ2):c.*1720_*1721dup rs35753731
NM_000891.3(KCNJ2):c.*1721dup rs35753731
NM_000891.3(KCNJ2):c.*2270G>T rs545863243
NM_000891.3(KCNJ2):c.*2328T>G rs1233305858
NM_000891.3(KCNJ2):c.*2339G>C rs1273347996
NM_000891.3(KCNJ2):c.*2343C>T rs536283660
NM_000891.3(KCNJ2):c.*2370C>T rs2074409675
NM_000891.3(KCNJ2):c.*2526A>G rs886053337
NM_000891.3(KCNJ2):c.*2663T>C rs886053338
NM_000891.3(KCNJ2):c.*2748T>C rs9915768
NM_000891.3(KCNJ2):c.*2770_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2771_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2772_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2774_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2775dup rs35656864
NM_000891.3(KCNJ2):c.*2776del rs886053343
NM_000891.3(KCNJ2):c.*308C>T rs2074395230
NM_000891.3(KCNJ2):c.*3173C>A rs1467380962
NM_000891.3(KCNJ2):c.*324del rs570173316
NM_000891.3(KCNJ2):c.*3391_*3392dup rs552636156
NM_000891.3(KCNJ2):c.*3463del rs3841509
NM_000891.3(KCNJ2):c.*596T>A rs886053328
NM_000891.3(KCNJ2):c.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT rs376713253
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) rs2074386589
NM_000891.3(KCNJ2):c.344C>T (p.Ala115Val) rs886053323
NM_000925.4(PDHB):c.*160A>G rs2062883381
NM_000925.4(PDHB):c.*328A>G rs2062880125
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_001008216.2(GALE):c.*12T>G rs1638931716
NM_001008216.2(GALE):c.*158G>A rs1343467826
NM_001008216.2(GALE):c.*326_*328dup rs557214506
NM_001008216.2(GALE):c.*327A>T rs535702110
NM_001008216.2(GALE):c.-77+205C>G rs910285433
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.450G>A (p.Thr150=) rs566884215
NM_001008216.2(GALE):c.989-13C>T rs199622680
NM_001039770.3(TMPPE):c.-492C>T rs1233290104
NM_001039770.3(TMPPE):c.-510T>G rs886058344
NM_001039770.3(TMPPE):c.-512C>G rs115554377
NM_001040716.2(PC):c.*101G>A rs561169212
NM_001040716.2(PC):c.*106G>T rs45505701
NM_001040716.2(PC):c.*164dup rs762257488
NM_001040716.2(PC):c.*203T>C rs886048553
NM_001040716.2(PC):c.*88G>A rs1945295941
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1513+14C>T rs1945613813
NM_001040716.2(PC):c.1513+6G>A rs566545355
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu) rs886048556
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.2019C>A (p.Val673=) rs1591119887
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys) rs1945464671
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn) rs1945442151
NM_001040716.2(PC):c.2292C>G (p.Pro764=) rs757918962
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp) rs886048555
NM_001040716.2(PC):c.2719-5_2719-3del rs566558597
NM_001040716.2(PC):c.3004G>A (p.Val1002Met) rs1289376036
NM_001040716.2(PC):c.3288+5T>C rs1945323792
NM_001040716.2(PC):c.3399G>A (p.Lys1133=) rs776825183
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu) rs1298569042
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001040716.2(PC):c.563G>T (p.Gly188Val) rs1946713663
NM_001040716.2(PC):c.75C>T (p.Ala25=) rs886048557
NM_001041.3(SI):c.*473G>A rs1717036361
NM_001041.4(SI):c.*151A>G rs1260115524
NM_001041.4(SI):c.*229T>C rs886058140
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.1147-13T>A rs771233611
NM_001041.4(SI):c.1380T>C (p.Ser460=) rs886058148
NM_001041.4(SI):c.1654T>C (p.Trp552Arg) rs1034161542
NM_001041.4(SI):c.16T>C (p.Phe6Leu) rs886058151
NM_001041.4(SI):c.1715+14C>A rs867982218
NM_001041.4(SI):c.1910T>G (p.Phe637Cys) rs886058147
NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs) rs967166732
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2381G>T (p.Gly794Val) rs886058146
NM_001041.4(SI):c.2428C>A (p.Arg810Ser) rs370537003
NM_001041.4(SI):c.2737-23_2737-22dup rs11452619
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-8del rs886058145
NM_001041.4(SI):c.2737-9dup rs747324303
NM_001041.4(SI):c.2772A>G (p.Gly924=) rs1712190551
NM_001041.4(SI):c.2859A>G (p.Gln953=) rs1444268809
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3540T>C (p.Thr1180=) rs759754319
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu) rs762898979
NM_001041.4(SI):c.3729T>C (p.Tyr1243=) rs779155501
NM_001041.4(SI):c.373+11C>T rs373374968
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys) rs886058144
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu) rs886058143
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu) rs747041492
NM_001041.4(SI):c.4014G>A (p.Leu1338=) rs1718841872
NM_001041.4(SI):c.4077T>C (p.His1359=) rs886058142
NM_001041.4(SI):c.4191G>A (p.Glu1397=) rs886058141
NM_001041.4(SI):c.4209T>C (p.Asn1403=) rs113826825
NM_001041.4(SI):c.4267+9T>C rs1718590792
NM_001041.4(SI):c.4772C>A (p.Pro1591His) rs1717913697
NM_001041.4(SI):c.4793A>T (p.His1598Leu) rs562705407
NM_001041.4(SI):c.483+8T>G rs1714387601
NM_001041.4(SI):c.4841+15T>A rs1041663787
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp) rs145556619
NM_001041.4(SI):c.5279G>T (p.Gly1760Val) rs145556619
NM_001041.4(SI):c.5319T>C (p.His1773=) rs774545616
NM_001041.4(SI):c.567G>A (p.Leu189=) rs76463353
NM_001041.4(SI):c.635+3A>G rs879204269
NM_001041.4(SI):c.636-14_636-10del rs886058150
NM_001042351.3(G6PD):c.-9+14C>G rs2070776414
NM_001160372.4(TRAPPC9):c.1496-3C>T rs942972668
NM_001160372.4(TRAPPC9):c.3280-8C>G rs752940904
NM_001160372.4(TRAPPC9):c.584+1G>A rs1292031022
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs) rs886062727
NM_001164277.2(SLC37A4):c.*139G>T rs886047747
NM_001164277.2(SLC37A4):c.*360C>G rs886047744
NM_001164277.2(SLC37A4):c.*5A>C rs373050741
NM_001164277.2(SLC37A4):c.-108G>A rs536032716
NM_001164277.2(SLC37A4):c.-195-11G>T rs886047751
NM_001164277.2(SLC37A4):c.-217G>A rs527772065
NM_001164277.2(SLC37A4):c.-291del rs754442670
NM_001164277.2(SLC37A4):c.-384G>A rs886047753
NM_001164277.2(SLC37A4):c.-439T>C rs1943713097
NM_001164277.2(SLC37A4):c.-594A>T rs993428424
NM_001164277.2(SLC37A4):c.-99A>G rs1943684789
NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=) rs886047749
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.2(SLC37A4):c.148+7C>T rs782814241
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val) rs1280285676
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=) rs1376674013
NM_001164277.2(SLC37A4):c.382-6C>A rs756248657
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp) rs752687782
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=) rs1555191880
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) rs369399624
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His) rs201468609
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His) rs747482925
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly) rs886051892
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*1589CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1614dup rs886057068
NM_001352514.2(HLCS):c.*1997G>A rs886057066
NM_001352514.2(HLCS):c.*2023G>A rs886057065
NM_001352514.2(HLCS):c.*2267G>T rs886057064
NM_001352514.2(HLCS):c.*2285G>A rs886057063
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*2647T>A rs2089366675
NM_001352514.2(HLCS):c.*270dup rs886057074
NM_001352514.2(HLCS):c.*2952CT[1] rs886057061
NM_001352514.2(HLCS):c.*3050A>G rs2089352875
NM_001352514.2(HLCS):c.*305T>C rs2089455426
NM_001352514.2(HLCS):c.*3161G>T rs886057060
NM_001352514.2(HLCS):c.*3162T>A rs552016201
NM_001352514.2(HLCS):c.*3175A>G rs2089348881
NM_001352514.2(HLCS):c.*3226del rs35955622
NM_001352514.2(HLCS):c.*3226dup rs35955622
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys) rs747688148
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met) rs886057079
NM_001352514.2(HLCS):c.493+9C>A rs886057078
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys) rs2066934793
NM_001360016.2(G6PD):c.1051+15C>A rs2070358006
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.297G>A (p.Glu99=) rs2070395767
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr) rs367607992
NM_001365304.2(LOC112694756):c.*888+17del rs886051891
NM_001366110.1(PAX4):c.*469TATG[3] rs66998513
NM_001366110.1(PAX4):c.*474_*477dup rs1554403669
NM_001366110.1(PAX4):c.*477_*478insATGT rs200757052
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*492_*497del rs886061966
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*494AC[11] rs36159526
NM_001366110.1(PAX4):c.*494AC[13] rs36159526
NM_001366110.1(PAX4):c.*494AC[14] rs36159526
NM_001366110.1(PAX4):c.*514_*521delinsTGAT rs886061965
NM_001366110.1(PAX4):c.*518_*521delinsACACTGAT rs886061964
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.*66C>T rs886061967
NM_001366110.1(PAX4):c.*722T>C rs759186282
NM_001366110.1(PAX4):c.13+175G>C rs327516
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu) rs886061969
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001366110.1(PAX4):c.772-13dup rs35434068
NM_001366110.1(PAX4):c.772-3del rs35434068
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr) rs886061968
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001715.2(BLK):c.*500G>T rs767723868
NM_001715.2(BLK):c.-440G>A rs554033678
NM_001715.2(BLK):c.-475A>C rs886062589
NM_001715.3(BLK):c.*130G>T rs576749814
NM_001715.3(BLK):c.*161C>G rs886062597
NM_001715.3(BLK):c.*182del rs570307048
NM_001715.3(BLK):c.*214C>T rs1585428580
NM_001715.3(BLK):c.*271G>A rs1343284509
NM_001715.3(BLK):c.*289G>A rs886062599
NM_001715.3(BLK):c.*42A>G rs759997593
NM_001715.3(BLK):c.-9T>C rs886062594
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly) rs886062595
NM_001715.3(BLK):c.1208C>T (p.Ala403Val) rs139210041
NM_001715.3(BLK):c.129C>A (p.Val43=) rs377568491
NM_001715.3(BLK):c.1374C>T (p.Asp458=) rs376977643
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln) rs1171913284
NM_001715.3(BLK):c.311G>T (p.Arg104Ile) rs142298864
NM_001715.3(BLK):c.391C>A (p.Arg131=) rs73663163
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_001715.3(BLK):c.824C>T (p.Thr275Ile) rs748444664
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_002076.3(GNS):c.-168dupC rs145477737
NM_002076.4(GNS):c.*1580A>G rs886049764
NM_002076.4(GNS):c.*1809T>C rs1868815358
NM_002076.4(GNS):c.*1977A>G rs1868809897
NM_002076.4(GNS):c.*2146G>A rs900823217
NM_002076.4(GNS):c.*2406A>G rs1868795917
NM_002076.4(GNS):c.*2489T>C rs529418480
NM_002076.4(GNS):c.*2611dup rs201933913
NM_002076.4(GNS):c.*2787del rs886049760
NM_002076.4(GNS):c.*37G>T rs142001509
NM_002076.4(GNS):c.*574G>A rs886049770
NM_002076.4(GNS):c.*699G>C rs1868848563
NM_002076.4(GNS):c.*734A>G rs886049768
NM_002076.4(GNS):c.*846C>T rs886049765
NM_002076.4(GNS):c.-120A>G rs778270030
NM_002076.4(GNS):c.-39TCCCG[4] rs559286032
NM_002076.4(GNS):c.16C>G (p.Leu6Val) rs746189087
NM_002076.4(GNS):c.229A>G (p.Met77Val) rs763723151
NM_002076.4(GNS):c.939T>G (p.Thr313=) rs1869657867
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.*143C>G rs995248958
NM_002103.5(GYS1):c.*26G>A rs886054567
NM_002103.5(GYS1):c.*465G>A rs2038501511
NM_002103.5(GYS1):c.*59A>T rs973667510
NM_002103.5(GYS1):c.-157C>T rs748554746
NM_002103.5(GYS1):c.-172T>C rs886054574
NM_002103.5(GYS1):c.-195T>A rs2038974225
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp) rs886054571
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys) rs868354195
NM_002103.5(GYS1):c.1170-13C>T rs886054570
NM_002103.5(GYS1):c.1278T>G (p.Thr426=) rs2038685440
NM_002103.5(GYS1):c.1377C>T (p.Thr459=) rs2038616834
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg) rs556352989
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.235C>T (p.Leu79=) rs886054573
NM_002103.5(GYS1):c.300G>A (p.Lys100=) rs886054572
NM_002103.5(GYS1):c.417C>T (p.Ile139=) rs758550328
NM_002294.3(LAMP2):c.*1243A>G rs147825361
NM_002294.3(LAMP2):c.*1701dup rs373005118
NM_002294.3(LAMP2):c.*2148AT[8] rs753399289
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*2736T>A rs1057515738
NM_002294.3(LAMP2):c.*2955A>G rs1275264834
NM_002294.3(LAMP2):c.*3031dup rs113549733
NM_002294.3(LAMP2):c.*3347GTTA[1] rs764018077
NM_002294.3(LAMP2):c.*33A>G rs745798436
NM_002294.3(LAMP2):c.*3413T>C rs1180263874
NM_002294.3(LAMP2):c.*3459GTT[3] rs199705754
NM_002294.3(LAMP2):c.*3563T>G rs2058504321
NM_002294.3(LAMP2):c.*3677C>A rs1057515737
NM_002294.3(LAMP2):c.*653A>G rs1057515744
NM_002294.3(LAMP2):c.*692G>A rs1057515743
NM_002294.3(LAMP2):c.-103G>C rs1057515747
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys) rs2058604992
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_002299.4(LCT):c.*193C>T rs1189424123
NM_002299.4(LCT):c.*239C>T rs16832012
NM_002299.4(LCT):c.*251G>A rs886054860
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) rs886054868
NM_002299.4(LCT):c.122A>C (p.His41Pro) rs757541640
NM_002299.4(LCT):c.2349C>T (p.Leu783=) rs2077740890
NM_002299.4(LCT):c.2718C>T (p.Asp906=) rs1454730571
NM_002299.4(LCT):c.2819G>A (p.Gly940Glu) rs2077714482
NM_002299.4(LCT):c.2969G>T (p.Ser990Ile) rs201881537
NM_002299.4(LCT):c.2983C>T (p.His995Tyr) rs1261476069
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.3390G>A (p.Glu1130=) rs886054865
NM_002299.4(LCT):c.3532C>T (p.Leu1178=) rs886054864
NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr) rs886054863
NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala) rs138785223
NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys) rs2077699049
NM_002299.4(LCT):c.3804C>A (p.Pro1268=) rs748206266
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=) rs557321611
NM_002299.4(LCT):c.4173+6_4173+8del rs375300532
NM_002299.4(LCT):c.4239A>G (p.Pro1413=) rs752925060
NM_002299.4(LCT):c.4404G>A (p.Ala1468=) rs151321629
NM_002299.4(LCT):c.4434T>C (p.Asp1478=) rs778761405
NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser) rs139591272
NM_002299.4(LCT):c.4664-10A>G rs1575334525
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) rs886054862
NM_002299.4(LCT):c.54G>C (p.Trp18Cys) rs886054870
NM_002299.4(LCT):c.5563+7T>C rs2077518427
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.621C>T (p.His207=) rs369174474
NM_002299.4(LCT):c.655G>A (p.Val219Ile) rs3754689
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_002300.7(LDHB):c.-109C>T rs886049167
NM_002300.8(LDHB):c.*73T>C rs886049163
NM_002300.8(LDHB):c.-34A>G rs1938903896
NM_002300.8(LDHB):c.-71C>G rs977721300
NM_002300.8(LDHB):c.130-3_130-2del rs200371155
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu) rs1938543300
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg) rs1938542112
NM_002300.8(LDHB):c.528T>A (p.Ala176=) rs886049164
NM_002300.8(LDHB):c.843G>A (p.Met281Ile) rs150060988
NM_002300.8(LDHB):c.946C>T (p.Gln316Ter) rs1565623986
NM_002500.4(NEUROD1):c.*1486A>G rs1688569851
NM_002500.5(NEUROD1):c.*1125T>G rs1688578868
NM_002500.5(NEUROD1):c.*463del rs886055325
NM_002500.5(NEUROD1):c.*608T>C rs1688595150
NM_002500.5(NEUROD1):c.*617C>T rs886055323
NM_002500.5(NEUROD1):c.*640_*641dup rs886055322
NM_002500.5(NEUROD1):c.*642_*643del rs886055321
NM_002500.5(NEUROD1):c.*674_*677dup rs374172497
NM_002500.5(NEUROD1):c.*676_*677dup rs374172497
NM_002500.5(NEUROD1):c.*677dup rs374172497
NM_002500.5(NEUROD1):c.*75G>T rs1688606060
NM_002500.5(NEUROD1):c.*773A>C rs886055319
NM_002500.5(NEUROD1):c.*795T>C rs946367001
NM_002500.5(NEUROD1):c.*819C>G rs1688587199
NM_002500.5(NEUROD1):c.*859C>A rs752652027
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg) rs376752352
NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro) rs761826783
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys) rs886055327
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala) rs1559135056
NM_002591.4(PCK1):c.*202G>A rs886056795
NM_002591.4(PCK1):c.*349AT[4] rs201179319
NM_002591.4(PCK1):c.*349AT[6] rs201179319
NM_002591.4(PCK1):c.*357_*360del rs147972610
NM_002591.4(PCK1):c.*357_*362del rs760440639
NM_002591.4(PCK1):c.*358TG[14] rs141075201
NM_002591.4(PCK1):c.*358TG[15] rs141075201
NM_002591.4(PCK1):c.*358TG[16] rs141075201
NM_002591.4(PCK1):c.*358TG[17] rs141075201
NM_002591.4(PCK1):c.*358TG[19] rs141075201
NM_002591.4(PCK1):c.*358TG[20] rs141075201
NM_002591.4(PCK1):c.*358TG[21] rs141075201
NM_002591.4(PCK1):c.*358TG[24] rs141075201
NM_002591.4(PCK1):c.*51G>C rs6025630
NM_002591.4(PCK1):c.*608A>C rs2070206106
NM_002591.4(PCK1):c.-40-12T>C rs2070139661
NM_002591.4(PCK1):c.-54C>T rs886056794
NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp) rs368426390
NM_002591.4(PCK1):c.1658C>T (p.Thr553Met) rs762446688
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045
NM_002591.4(PCK1):c.1688C>T (p.Ala563Val) rs1256902604
NM_002591.4(PCK1):c.203G>T (p.Arg68Leu) rs147273759
NM_002591.4(PCK1):c.474C>T (p.Ile158=) rs764002893
NM_002591.4(PCK1):c.716C>T (p.Ser239Leu) rs139902878
NM_002591.4(PCK1):c.733T>G (p.Cys245Gly) rs763473369
NM_002591.4(PCK1):c.824del (p.Gly275fs) rs748437548
NM_002591.4(PCK1):c.831G>A (p.Lys277=) rs371044564
NM_002591.4(PCK1):c.904G>A (p.Gly302Arg) rs200817092
NM_002637.4(PHKA1):c.*1375A>G rs142925152
NM_002637.4(PHKA1):c.*2056T>A rs2052298372
NM_002637.4(PHKA1):c.*503C>T rs1433119416
NM_002637.4(PHKA1):c.*772C>T rs2052317488
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro) rs2053084669
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=) rs782602098
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr) rs2052331052
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe) rs2052328981
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.*129T>C rs886050536
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp) rs886050538
NM_002863.5(PYGL):c.1063G>A (p.Val355Met) rs771331012
NM_002863.5(PYGL):c.1768+10C>T rs780893472
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.310G>A (p.Gly104Ser) rs762102544
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr) rs745625131
NM_002863.5(PYGL):c.360A>T (p.Ile120=) rs1159794818
NM_002863.5(PYGL):c.773-13A>G rs775151283
NM_002863.5(PYGL):c.780del (p.Gly261fs) rs1489848369
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp) rs2050490818
NM_003041.4(SLC5A2):c.*160C>T rs2082559242
NM_003041.4(SLC5A2):c.1129+6G>A rs2082520576
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro) rs1198340932
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=) rs537643888
NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala) rs886051961
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu) rs2082529261
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met) rs1426433916
NM_003041.4(SLC5A2):c.1449+14G>A rs777309894
NM_003041.4(SLC5A2):c.1450-4G>A rs886051962
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile) rs2082481220
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=) rs368649902
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr) rs1188721313
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del) rs771257793
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys) rs760556743
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe) rs141376808
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=) rs2082556858
NM_003051.3(SLC16A1):c.-214C>G rs183726141
NM_003051.3(SLC16A1):c.-226G>A rs886045089
NM_003051.3(SLC16A1):c.-249C>G rs60953496
NM_003051.3(SLC16A1):c.-249C>T rs60953496
NM_003051.3(SLC16A1):c.-313T>C rs886045090
NM_003051.3(SLC16A1):c.-314A>G rs886045091
NM_003051.3(SLC16A1):c.-316G>A rs1313637478
NM_003051.4(SLC16A1):c.*1044T>G rs1190989254
NM_003051.4(SLC16A1):c.*1051G>A rs886045064
NM_003051.4(SLC16A1):c.*1064G>T rs886045063
NM_003051.4(SLC16A1):c.*1071T>C rs1648368024
NM_003051.4(SLC16A1):c.*1072G>T rs886045062
NM_003051.4(SLC16A1):c.*361G>T rs1407575522
NM_003051.4(SLC16A1):c.*739T>C rs570060559
NM_003051.4(SLC16A1):c.*739T>G rs570060559
NM_003051.4(SLC16A1):c.1228+6G>A rs190615745
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala) rs886045067
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=) rs145916504
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser) rs200143982
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu) rs766830652
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=) rs760137043
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu) rs774823539
NM_003384.3(VRK1):c.*104A>G rs1889251007
NM_003384.3(VRK1):c.*171C>A rs1889253340
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*338A>G rs1889259011
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.374+11G>A rs937625087
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.2(PDHX):c.-271G>T rs780153979
NM_003477.3(PDHX):c.*662A>T rs1855847638
NM_003477.3(PDHX):c.*783G>T rs751318367
NM_003477.3(PDHX):c.*821A>T rs1020596537
NM_003477.3(PDHX):c.*874A>G rs1855851456
NM_003477.3(PDHX):c.*904G>T rs182283782
NM_003477.3(PDHX):c.-27C>T rs529801753
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln) rs200419151
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) rs769476738
NM_003477.3(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu) rs1855230194
NM_003597.5(KLF11):c.*122C>T rs576978858
NM_003597.5(KLF11):c.*1296T>C rs886054730
NM_003597.5(KLF11):c.*1423T>C rs571234569
NM_003597.5(KLF11):c.*1495G>A rs886054733
NM_003597.5(KLF11):c.*1612C>G rs886054734
NM_003597.5(KLF11):c.*1894A>G rs557209557
NM_003597.5(KLF11):c.*226_*227dup rs34206941
NM_003597.5(KLF11):c.*227dup rs34206941
NM_003597.5(KLF11):c.*319C>T rs777727299
NM_003597.5(KLF11):c.*457A>T rs920552860
NM_003597.5(KLF11):c.*96dup rs886054725
NM_003597.5(KLF11):c.-95GCC[5] rs372827624
NM_003597.5(KLF11):c.-95GCC[7] rs372827624
NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr) rs886054724
NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly) rs757875185
NM_003597.5(KLF11):c.351A>G (p.Pro117=) rs781433096
NM_003597.5(KLF11):c.644A>G (p.Gln215Arg) rs1347317649
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_003597.5(KLF11):c.926T>C (p.Leu309Ser) rs1661291203
NM_003619.4(PRSS12):c.*1431C>T rs548846144
NM_003619.4(PRSS12):c.*1577A>G rs1742810283
NM_003619.4(PRSS12):c.*1699T>C rs886059024
NM_003619.4(PRSS12):c.*260C>T rs886059031
NM_003619.4(PRSS12):c.*263A>G rs957795451
NM_003619.4(PRSS12):c.*278T>A rs886059030
NM_003619.4(PRSS12):c.*526T>A rs886059029
NM_003619.4(PRSS12):c.*531C>A rs886059028
NM_003619.4(PRSS12):c.*830C>T rs886059026
NM_003619.4(PRSS12):c.*839T>C rs1343646133
NM_003619.4(PRSS12):c.*842C>G rs886059025
NM_003619.4(PRSS12):c.*849C>T rs1742836402
NM_003619.4(PRSS12):c.*906A>G rs1742834260
NM_003619.4(PRSS12):c.*950A>C rs1314051273
NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly) rs1743806508
NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter) rs1560774339
NM_003619.4(PRSS12):c.1512T>C (p.Asp504=) rs886059035
NM_003619.4(PRSS12):c.1722G>A (p.Arg574=) rs1743319957
NM_003619.4(PRSS12):c.1788A>T (p.Gly596=) rs886059034
NM_003619.4(PRSS12):c.1917-4T>C rs1743223579
NM_003619.4(PRSS12):c.195C>T (p.Phe65=) rs1671147684
NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser) rs371384574
NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly) rs369577707
NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His) rs558433873
NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg) rs1191488477
NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu) rs755655664
NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp) rs72677056
NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn) rs1723924890
NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu) rs1723924725
NM_005271.5(GLUD1):c.*1139T>C rs1845608491
NM_005271.5(GLUD1):c.*1211T>C rs1845605578
NM_005271.5(GLUD1):c.*1252T>C rs886047371
NM_005271.5(GLUD1):c.*1515A>G rs1845594094
NM_005271.5(GLUD1):c.*1545C>T rs886047367
NM_005271.5(GLUD1):c.*205A>G rs886047373
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005271.5(GLUD1):c.*64T>C rs760101776
NM_005271.5(GLUD1):c.*64T>G rs760101776
NM_005271.5(GLUD1):c.*868A>C rs1430742705
NM_005271.5(GLUD1):c.-44C>T rs886047379
NM_005271.5(GLUD1):c.1279-3T>C rs1845868081
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.546T>C (p.Ala182=) rs886047378
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg) rs886047377
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter) rs886047375
NM_005327.4(HADH):c.-195A>C rs886058979
NM_005327.4(HADH):c.-195A>G rs886058979
NM_005327.4(HADH):c.-56C>A rs770197760
NM_005327.7(HADH):c.*661dup rs886058981
NM_005327.7(HADH):c.132+6C>G rs772843585
NM_005327.7(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005327.7(HADH):c.688G>A (p.Ala230Thr) rs780574282
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) rs1736344235
NM_005566.3(LDHA):c.-152dup rs371317664
NM_005566.4(LDHA):c.*18T>C rs1866725270
NM_005566.4(LDHA):c.*48C>T rs1866727073
NM_005566.4(LDHA):c.*501C>A rs886048090
NM_005566.4(LDHA):c.*52G>T rs1866727649
NM_005566.4(LDHA):c.*586A>G rs886048091
NM_005566.4(LDHA):c.*694C>T rs1866763337
NM_005566.4(LDHA):c.126+3_126+6del rs776715682
NM_005566.4(LDHA):c.538G>T (p.Val180Phe) rs200586792
NM_005566.4(LDHA):c.675del (p.Glu225fs) rs751851558
NM_005566.4(LDHA):c.984G>A (p.Lys328=) rs1866722699
NM_005609.2(PYGM):c.-556C>G rs886048467
NM_005609.2(PYGM):c.-668C>T rs886048468
NM_005609.4(PYGM):c.-23G>A rs886048465
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1769-7T>C rs2058357396
NM_005609.4(PYGM):c.177C>T (p.Thr59=) rs753355735
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys) rs886048464
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn) rs2058315823
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val) rs2058310112
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005908.4(MANBA):c.*314A>G rs886058966
NM_005908.4(MANBA):c.*328T>A rs1729383430
NM_005908.4(MANBA):c.*503G>C rs1022995879
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu) rs200033515
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys) rs763613927
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) rs774068992
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) rs767182713
NM_005908.4(MANBA):c.2415+1G>C rs1284324018
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) rs182869272
NM_005908.4(MANBA):c.492C>T (p.Pro164=) rs1722640489
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys) rs1724216325
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp) rs1732436667
NM_005908.4(MANBA):c.77G>A (p.Arg26His) rs767103860
NM_005908.4(MANBA):c.961-8C>A rs886058969
NM_006488.3(KHK):c.*11C>T rs759689060
NM_006488.3(KHK):c.*159G>A rs886055892
NM_006488.3(KHK):c.*176G>A rs1558454561
NM_006488.3(KHK):c.*198A>C rs886055893
NM_006488.3(KHK):c.*20AC[2] rs370253620
NM_006488.3(KHK):c.*739G>C rs751242318
NM_006488.3(KHK):c.-140G>A rs886055884
NM_006488.3(KHK):c.15G>A (p.Gln5=) rs1669712582
NM_006488.3(KHK):c.210-245C>G rs202153228
NM_006488.3(KHK):c.500G>A (p.Arg167Gln) rs201707861
NM_006488.3(KHK):c.557G>A (p.Gly186Glu) rs886055888
NM_006488.3(KHK):c.643G>C (p.Val215Leu) rs886055889
NM_006488.3(KHK):c.653+5G>A rs1670622215
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del) rs745546639
NM_006488.3(KHK):c.826G>A (p.Glu276Lys) rs761486852
NM_006516.2(SLC2A1):c.-388G>T rs544483207
NM_006516.4(SLC2A1):c.*1079T>G rs1426402573
NM_006516.4(SLC2A1):c.*1081T>A rs886046333
NM_006516.4(SLC2A1):c.*1147G>C rs886046332
NM_006516.4(SLC2A1):c.*1337A>G rs113441673
NM_006516.4(SLC2A1):c.*1564C>T rs1057515570
NM_006516.4(SLC2A1):c.*1611T>C rs1057515457
NM_006516.4(SLC2A1):c.*216C>T rs1643431578
NM_006516.4(SLC2A1):c.*462G>C rs4658
NM_006516.4(SLC2A1):c.*92G>A rs1266657991
NM_006516.4(SLC2A1):c.-202G>C rs1016572946
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=) rs886046341
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe) rs1643484697
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=) rs1392755923
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=) rs753500924
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006721.4(ADK):c.*157G>A rs886047237
NM_006721.4(ADK):c.441C>T (p.Asp147=) rs886047236
NM_006721.4(ADK):c.494A>C (p.Lys165Thr) rs1219524919
NM_006721.4(ADK):c.66-23967G>T rs1842356778
NM_006721.4(ADK):c.66-24083G>C rs886047233
NM_006721.4(ADK):c.66-24133G>A rs1036870011
NM_006721.4(ADK):c.66-24151A>T rs886047232
NM_006755.1(TALDO1):c.-30_-19del rs71464113
NM_006755.1(TALDO1):c.-36_-34CGC[7] rs71464113
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala) rs1862905275
NM_006755.2(TALDO1):c.488A>G (p.His163Arg) rs886048664
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln) rs1863002079
NM_006755.2(TALDO1):c.78C>G (p.Ala26=) rs886048659
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn) rs866261597
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val) rs1863012392
NM_006755.2(TALDO1):c.982-8_982-5del rs773135701
NM_012203.2(GRHPR):c.*132T>C rs1823695311
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.156C>G (p.Ala52=) rs754532633
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro) rs1588751701
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile) rs761490627
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro) rs886063930
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_012434.5(SLC17A5):c.*1056A>G rs938117850
NM_012434.5(SLC17A5):c.*1332T>A rs886061728
NM_012434.5(SLC17A5):c.*1332del rs559455789
NM_012434.5(SLC17A5):c.*1587del rs886061725
NM_012434.5(SLC17A5):c.*501G>A rs933119464
NM_012434.5(SLC17A5):c.*595C>G rs540399289
NM_012434.5(SLC17A5):c.*666C>T rs886061732
NM_012434.5(SLC17A5):c.*764G>A rs139964473
NM_012434.5(SLC17A5):c.-56C>G rs886061736
NM_012434.5(SLC17A5):c.-73C>A rs1769998487
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr) rs1767808770
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=) rs372195490
NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly) rs886061735
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_015957.4(APIP):c.-14C>T rs886048245
NM_015957.4(APIP):c.-53C>T rs2956113
NM_015957.4(APIP):c.57+57C>G rs988171497
NM_015957.4(APIP):c.57+78A>G rs2016814
NM_015957.4(APIP):c.57+91G>T rs561463212
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.*242A>C rs1828556271
NM_016042.4(EXOSC3):c.*354C>A rs530037792
NM_016042.4(EXOSC3):c.*354C>G rs530037792
NM_016042.4(EXOSC3):c.*419A>G rs1828546518
NM_016042.4(EXOSC3):c.*582A>C rs886063932
NM_016042.4(EXOSC3):c.*812T>G rs886063931
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr) rs758230758
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu) rs140199968
NM_016203.3(PRKAG2):c.-517G>T rs886062107
NM_016203.3(PRKAG2):c.-575C>T rs886062108
NM_016203.3(PRKAG2):c.-580C>T rs886062109
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT rs886062094
NM_016203.4(PRKAG2):c.*1021del rs11329945
NM_016203.4(PRKAG2):c.*1029dup rs1554444891
NM_016203.4(PRKAG2):c.*1040del rs56898021
NM_016203.4(PRKAG2):c.*1040dup rs56898021
NM_016203.4(PRKAG2):c.*1041dup rs886062093
NM_016203.4(PRKAG2):c.*350C>A rs886062099
NM_016203.4(PRKAG2):c.*896del rs532079387
NM_016203.4(PRKAG2):c.-274C>A rs886062104
NM_016203.4(PRKAG2):c.-351G>A rs886062105
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=) rs886062100
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016219.5(MAN1B1):c.*258C>T rs755189897
NM_016219.5(MAN1B1):c.*470C>T rs558804715
NM_016219.5(MAN1B1):c.*498G>C rs886063734
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu) rs774769293
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=) rs1168317937
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=) rs774835139
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=) rs886063730
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=) rs886063731
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=) rs34355967
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val) rs1830422438
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=) rs886063727
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val) rs886063728
NM_016219.5(MAN1B1):c.731-8C>T rs375902720
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs) rs1190243291
NM_017755.6(NSUN2):c.*532A>G rs1317432691
NM_017755.6(NSUN2):c.*619G>A rs1018606113
NM_017755.6(NSUN2):c.*97C>A rs759455426
NM_017755.6(NSUN2):c.138G>A (p.Lys46=) rs886060729
NM_017755.6(NSUN2):c.1818+4A>G rs1736685253
NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met) rs139224594
NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser) rs1736479408
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017755.6(NSUN2):c.615C>A (p.Pro205=) rs773951967
NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly) rs1737229372
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_018444.4(PDP1):c.*1661del rs60316663
NM_018444.4(PDP1):c.*724del rs886063179
NM_018444.4(PDP1):c.*898CTT[1] rs756226872
NM_020897.3(HCN3):c.*1354A>G rs1674455124
NM_021957.4(GYS2):c.*290G>T rs17849015
NM_021957.4(GYS2):c.*437dup rs60154469
NM_021957.4(GYS2):c.*468T>C rs1943911606
NM_021957.4(GYS2):c.*545G>A rs562024109
NM_021957.4(GYS2):c.*567del rs886049152
NM_021957.4(GYS2):c.*684C>T rs746414953
NM_021957.4(GYS2):c.*735TAAA[1] rs886049151
NM_021957.4(GYS2):c.1170-4A>G rs886049157
NM_021957.4(GYS2):c.1171G>T (p.Asp391Tyr) rs763052951
NM_021957.4(GYS2):c.1418T>G (p.Val473Gly) rs886049156
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021957.4(GYS2):c.1820A>G (p.His607Arg) rs886049155
NM_021957.4(GYS2):c.2055T>C (p.Phe685=) rs201063818
NM_021957.4(GYS2):c.215A>G (p.His72Arg) rs574787003
NM_021957.4(GYS2):c.279C>T (p.Asp93=) rs779704436
NM_021957.4(GYS2):c.289A>G (p.Lys97Glu) rs886049161
NM_021957.4(GYS2):c.755C>G (p.Ala252Gly) rs886049160
NM_021957.4(GYS2):c.942-6T>C rs886049158
NM_022895.3(C12orf43):c.*1890C>A rs886049035
NM_022895.3(C12orf43):c.*2372G>A rs55962050
NM_022895.3(C12orf43):c.*2626G>A rs1877483762
NM_022895.3(C12orf43):c.*2765C>T rs1877471070
NM_022895.3(C12orf43):c.*2768G>T rs972789249
NM_022895.3(C12orf43):c.*2922C>G rs758414199
NM_033159.4(HYAL1):c.*106G>C rs903056291
NM_033159.4(HYAL1):c.*333C>G rs1702060462
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=) rs782279681
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser) rs1702097712
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=) rs587680396
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu) rs1971740543
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser) rs143749502
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys) rs199677913
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu) rs748865733
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.834del (p.Glu278fs) rs779920188
NM_053013.4(ENO3):c.86-3del rs151153333
NM_080749.4(NEURL2):c.-92del rs554760054
NM_138413.4(HOGA1):c.*1059A>C rs886047524
NM_138413.4(HOGA1):c.*186C>A rs576078709
NM_138413.4(HOGA1):c.*204T>A rs886047519
NM_138413.4(HOGA1):c.*288A>C rs886047520
NM_138413.4(HOGA1):c.*291C>T rs1451536369
NM_138413.4(HOGA1):c.*350dup rs1554875325
NM_138413.4(HOGA1):c.*353_*354dup rs5787248
NM_138413.4(HOGA1):c.*354dup rs5787248
NM_138413.4(HOGA1):c.*359dup rs561998392
NM_138413.4(HOGA1):c.*381AG[1] rs886047523
NM_138413.4(HOGA1):c.*391T>C rs2041201199
NM_138413.4(HOGA1):c.*415T>A rs148648470
NM_138413.4(HOGA1):c.*427G>A rs181759217
NM_138413.4(HOGA1):c.*485C>T rs553100036
NM_138413.4(HOGA1):c.*560T>C rs1977641
NM_138413.4(HOGA1):c.*592C>G rs573565860
NM_138413.4(HOGA1):c.*592C>T rs573565860
NM_138413.4(HOGA1):c.*637G>A rs1977640
NM_138413.4(HOGA1):c.*665C>T rs2041204731
NM_138413.4(HOGA1):c.*733C>T rs764120248
NM_138413.4(HOGA1):c.*803A>G rs542605022
NM_138413.4(HOGA1):c.*887C>G rs2041206041
NM_138413.4(HOGA1):c.*937C>T rs532737566
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp) rs1347221993
NM_138413.4(HOGA1):c.604-4G>T rs2041104477
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr) rs2041104991
NM_138413.4(HOGA1):c.701-11_701-8dup rs143018385
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser) rs886047518
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met) rs144103035
NM_138413.4(HOGA1):c.834G>T (p.Ala278=) rs770050262
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del) rs397509360
NM_144563.3(RPIA):c.*134A>C rs892159755
NM_144563.3(RPIA):c.*281A>G rs1052569032
NM_144563.3(RPIA):c.*291del rs113052379
NM_144563.3(RPIA):c.*599GTT[1] rs371885783
NM_144563.3(RPIA):c.*635A>G rs150350485
NM_144563.3(RPIA):c.*807C>G rs886056426
NM_144563.3(RPIA):c.-17C>A rs776488875
NM_144563.3(RPIA):c.177C>T (p.Ser59=) rs1676938837
NM_144563.3(RPIA):c.493G>A (p.Val165Ile) rs886056422
NM_144563.3(RPIA):c.633G>A (p.Lys211=) rs72930711
NM_144563.3(RPIA):c.738+18del rs750253754
NM_152419.3(HGSNAT):c.*1026G>C rs533282054
NM_152419.3(HGSNAT):c.*1086G>C rs145370743
NM_152419.3(HGSNAT):c.*1100_*1103del rs886062959
NM_152419.3(HGSNAT):c.*1204C>A rs763225051
NM_152419.3(HGSNAT):c.*1214C>A rs1250097718
NM_152419.3(HGSNAT):c.*1219G>A rs989915640
NM_152419.3(HGSNAT):c.*1331T>A rs543569352
NM_152419.3(HGSNAT):c.*1584A>G rs1804905348
NM_152419.3(HGSNAT):c.*1696T>G rs1278712308
NM_152419.3(HGSNAT):c.*1750C>T rs886062961
NM_152419.3(HGSNAT):c.*1925A>G rs1804916088
NM_152419.3(HGSNAT):c.*1942A>G rs112626858
NM_152419.3(HGSNAT):c.*196T>G rs886062956
NM_152419.3(HGSNAT):c.*2434G>A rs1804930624
NM_152419.3(HGSNAT):c.*2620A>C rs1804936973
NM_152419.3(HGSNAT):c.*2755C>T rs76686222
NM_152419.3(HGSNAT):c.*2802C>G rs187372766
NM_152419.3(HGSNAT):c.*2806G>C rs541393074
NM_152419.3(HGSNAT):c.*2950A>G rs1804948886
NM_152419.3(HGSNAT):c.*3044dup rs886062965
NM_152419.3(HGSNAT):c.*574C>G rs1804870887
NM_152419.3(HGSNAT):c.*581T>C rs772452020
NM_152419.3(HGSNAT):c.*600C>T rs377372501
NM_152419.3(HGSNAT):c.*612A>C rs1325231089
NM_152419.3(HGSNAT):c.*857C>T rs143991538
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu) rs1804527192
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val) rs1266245327
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly) rs764229375
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His) rs886062954
NM_153281.2(HYAL1):c.-237A>T rs1702408973
NM_153281.2(HYAL1):c.-310+12dup rs886058696
NM_153281.2(HYAL1):c.-384G>A rs886058698
NM_175914.5(HNF4A):c.*1089del rs749515492
NM_175914.5(HNF4A):c.*1106G>A rs753675648
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.*1809C>G rs2063876979
NM_175914.5(HNF4A):c.*1826G>A rs1763003018
NM_175914.5(HNF4A):c.*2167T>G rs886056687
NM_175914.5(HNF4A):c.*217C>T rs1019701119
NM_175914.5(HNF4A):c.*2256C>G rs537829031
NM_175914.5(HNF4A):c.*226C>A rs886056680
NM_175914.5(HNF4A):c.*2600T>C rs886056689
NM_175914.5(HNF4A):c.*2674_*2675del rs886056691
NM_175914.5(HNF4A):c.*2676dup rs886056692
NM_175914.5(HNF4A):c.*2677_*2683del rs886056693
NM_175914.5(HNF4A):c.*2677dup rs886056694
NM_175914.5(HNF4A):c.*2678dup rs761222838
NM_175914.5(HNF4A):c.*2679del rs886056695
NM_175914.5(HNF4A):c.*2698_*2704del rs886056697
NM_175914.5(HNF4A):c.*2703del rs11450239
NM_175914.5(HNF4A):c.*2703dup rs11450239
NM_175914.5(HNF4A):c.*2707del rs886056698
NM_175914.5(HNF4A):c.*2707dup rs886056699
NM_175914.5(HNF4A):c.*2761G>C rs1212257046
NM_175914.5(HNF4A):c.*2777del rs886056700
NM_175914.5(HNF4A):c.*2782A>C rs1192263020
NM_175914.5(HNF4A):c.*2796AC[1] rs548863430
NM_175914.5(HNF4A):c.*3024C>T rs886056702
NM_175914.5(HNF4A):c.*3052G>A rs546761850
NM_175914.5(HNF4A):c.*3104A>C rs886056703
NM_175914.5(HNF4A):c.*3142del rs141563916
NM_175914.5(HNF4A):c.*35C>A rs1019496764
NM_175914.5(HNF4A):c.*657G>A rs3212209
NM_175914.5(HNF4A):c.*76G>T rs11574743
NM_175914.5(HNF4A):c.*906A>C rs3212210
NM_175914.5(HNF4A):c.*906A>T rs3212210
NM_175914.5(HNF4A):c.*965G>T rs886056683
NM_175914.5(HNF4A):c.*987G>T rs886056684
NM_175914.5(HNF4A):c.*993G>A rs2063867733
NM_175914.5(HNF4A):c.1290C>T (p.Ala430=) rs530389600
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_175914.5(HNF4A):c.50-4630T>C rs2063407237
NM_175914.5(HNF4A):c.50-4791_50-4788del rs886056679
NM_178161.3(PTF1A):c.*126_*129del rs533517653
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393
NM_198586.3(NHLRC1):c.*153A>T rs895212001
NM_198586.3(NHLRC1):c.*175T>C rs1783727115
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*327G>C rs375143655
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln) rs764691077
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) rs370573413
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg) rs1783745635
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253

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