ClinVar Miner

List of variants reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3099
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HGVS dbSNP gnomAD frequency
NM_015981.4(CAMK2A):c.158-19A>C rs891938 0.99657
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_000030.3(AGXT):c.846+170C>T rs4675793 0.98913
NM_000027.4(AGA):c.699-25G>C rs4690521 0.98895
NM_000046.3(ARSB):c.-840_-839dup rs1255033691 0.98775
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) rs1169305 0.98610
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_015028.4(TNIK):c.2331G>C (p.Ala777=) rs6444960 0.98309
NM_002299.4(LCT):c.1084A>G (p.Ile362Val) rs4954449 0.97993
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_000294.2(PHKG2):c.-114T>C rs11863277 0.97872
NM_012203.2(GRHPR):c.404+291T>C rs2768657 0.97430
NM_000154.2(GALK1):c.476-74C>A rs820386 0.96509
NM_000294.3(PHKG2):c.271+38C>T rs4889504 0.96355
NM_001064.4(TKT):c.748+39C>G rs6445573 0.96164
NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala) rs1535422 0.96071
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) rs1769259 0.95944
NM_015275.3(WASHC4):c.2701G>A (p.Val901Ile) rs1663564 0.94695
NM_000046.4(ARSB):c.-302A>G rs163127 0.94480
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) rs2241694 0.94205
NM_002300.8(LDHB):c.713+15A>G rs1650289 0.94113
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
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_016302.4(CRBN):c.750+32A>G rs1705789 0.91072
NM_001715.3(BLK):c.176-104G>A rs6994605 0.90656
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555 0.89165
NM_024989.4(PGAP1):c.649+17G>A rs12693800 0.89159
NM_016302.4(CRBN):c.175-9T>C rs1669321 0.89132
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_014026.6(DCPS):c.315G>A (p.Gln105=) rs637462 0.87290
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) rs4760682 0.86945
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_012203.2(GRHPR):c.494-68A>G rs309459 0.86126
NM_153747.2(PIGC):c.267T>C (p.Gly89=) rs2230471 0.85989
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_006279.5(ST3GAL3):c.1038+15A>G rs3120803 0.84897
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_031229.4(RBCK1):c.168-242C>T rs6115906 0.81688
NM_005609.4(PYGM):c.528+74C>A rs489192 0.81198
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_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_000152.5(GAA):c.2331+20G>A rs2304832 0.80041
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756 0.79829
NM_000030.3(AGXT):c.777-44A>G rs12464426 0.79262
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_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_021957.4(GYS2):c.1169+12A>T rs4639981 0.76485
NM_016203.4(PRKAG2):c.864+35_864+36insA rs35348247 0.76395
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=) rs645056 0.76333
NM_005609.4(PYGM):c.999+99T>C rs625172 0.76284
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_021957.4(GYS2):c.1229+11G>A rs1871137 0.75356
NM_000404.4(GLB1):c.955+60A>G rs12632196 0.75289
NM_000545.8(HNF1A):c.1623+29T>C rs1169304 0.75160
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
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_021957.4(GYS2):c.1229+40T>C rs1871136 0.74383
NM_001543.5(NDST1):c.1662G>C (p.Thr554=) rs1290147 0.74209
NM_000151.4(G6PC1):c.*2095T>A rs692180 0.74089
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_000151.4(G6PC1):c.*23T>C rs2229611 0.73413
NM_005609.4(PYGM):c.1403+49C>A rs2959652 0.73109
NM_000925.4(PDHB):c.701-64G>T rs2070662 0.72970
NM_152419.3(HGSNAT):c.371+82C>T rs10958738 0.72852
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_031229.4(RBCK1):c.918-61A>G rs2057251 0.72369
NM_001041.4(SI):c.3888+19C>T rs2290738 0.72200
NM_021957.4(GYS2):c.1422+23C>G rs7977474 0.72064
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000152.5(GAA):c.2040+20A>G rs2304836 0.72004
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_000152.5(GAA):c.1327-18A>G rs2278619 0.71811
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000213.5(ITGB4):c.*25C>T rs9367 0.71419
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.70926
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.70902
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_002299.4(LCT):c.4606C>T (p.Leu1536=) rs2304371 0.69539
NM_000151.4(G6PC1):c.*2088A>T rs9902963 0.69330
NM_005609.4(PYGM):c.660+35G>A rs589691 0.68983
NM_002076.4(GNS):c.793-68G>C rs1690277 0.68800
NM_017755.6(NSUN2):c.1602-11G>T rs2303707 0.68523
NM_002500.5(NEUROD1):c.-73G>A rs2583016 0.68252
NM_005609.4(PYGM):c.529-82G>A rs490980 0.67990
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala) rs1801262 0.67693
NM_000154.2(GALK1):c.356-32C>T rs7209235 0.67684
NM_000458.4(HNF1B):c.1654-22= rs3110641 0.67606
NM_001543.5(NDST1):c.1097-28T>C rs2545341 0.67102
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_000152.5(GAA):c.1551+49C>A rs2304843 0.66585
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=) rs1141108 0.66577
NM_006618.5(KDM5B):c.747G>A (p.Thr249=) rs3196669 0.66570
NM_000528.4(MAN2B1):c.2267+63A>G rs3815914 0.66212
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_003754.3(EIF3F):c.561C>T (p.His187=) rs4758267 0.66119
NM_022042.4(SLC26A1):c.-27-209T>C rs3822020 0.66105
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434 0.66103
NM_003051.4(SLC16A1):c.*1414C>T rs7169 0.66095
NM_000108.5(DLD):c.199-108T>C rs10250718 0.66040
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.3259+37G>A rs594249 0.65860
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000152.5(GAA):c.547-39T>G rs12452721 0.65696
NM_000152.5(GAA):c.547-67C>G rs8069491 0.65691
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.693-33A>G rs4810476 0.65662
NM_000308.4(CTSA):c.1088+10C>T rs4608591 0.65654
NM_000152.5(GAA):c.1438-19G>C rs2304844 0.65495
NM_000308.4(CTSA):c.948+7G>A rs2075961 0.65493
NM_000152.5(GAA):c.955+12G>A rs2252455 0.65487
NM_000027.4(AGA):c.941-84C>G rs3805167 0.65485
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.1438-108G>A rs12944802 0.65436
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_000152.5(GAA):c.858+30T>C rs2304845 0.65092
NM_032808.7(LINGO1):c.714G>C (p.Leu238=) rs2271396 0.65067
NM_032808.7(LINGO1):c.474A>G (p.Leu158=) rs2271397 0.64965
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
NM_032808.7(LINGO1):c.465C>T (p.Ile155=) rs2271398 0.64821
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_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482 0.63686
NM_001360016.2(G6PD):c.1365-13C>T rs2071429 0.63462
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_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
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_006618.5(KDM5B):c.1887C>T (p.His629=) rs1892164 0.60950
NM_012203.2(GRHPR):c.404+153T>C rs2768658 0.60907
NM_000152.5(GAA):c.1754+144C>T rs2304838 0.60815
NM_002299.4(LCT):c.5568T>C (p.Ala1856=) rs2278544 0.60314
NM_000027.4(AGA):c.127+25C>T rs11131799 0.60222
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_006279.5(ST3GAL3):c.1039-18C>T rs2108202 0.59490
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_005883.3(APC2):c.413+95T>C rs12985827 0.59265
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_001041.4(SI):c.1512+25G>A rs9290256 0.57954
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_001041.4(SI):c.1278+42_1278+43insAT rs60170840 0.57854
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_001041.4(SI):c.1146+13A>C rs9290259 0.57783
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_175914.5(HNF4A):c.1217-67C>G rs3746575 0.56796
NM_175914.5(HNF4A):c.827-88T>C rs2273618 0.56736
NM_001041.4(SI):c.691A>G (p.Thr231Ala) rs9283633 0.56659
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_001715.3(BLK):c.-1-105C>G rs12386974 0.55690
NM_000152.5(GAA):c.1637-185A>G rs12951255 0.55461
NM_015028.4(TNIK):c.63C>T (p.Pro21=) rs3796295 0.55370
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.2015-28G>A rs4547797 0.55331
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_175914.5(HNF4A):c.670+141A>G rs6103731 0.55192
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_003597.5(KLF11):c.*1853T>C rs7632 0.55083
NM_000199.5(SGSH):c.250-26C>T rs4889839 0.54568
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_001064.4(TKT):c.1264+17T>C rs3736156 0.53227
NM_002076.4(GNS):c.*2361C>G rs1061743 0.52503
NM_138775.3(ALKBH8):c.878+31T>A rs589788 0.52394
NM_001365304.2(LOC112694756):c.*489-63G>C rs9783783 0.52268
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_000458.4(HNF1B):c.544+1391T>C rs4430796 0.52088
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
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_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
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_000528.4(MAN2B1):c.1310-22C>T rs73002392 0.50963
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_015028.4(TNIK):c.744C>T (p.Asn248=) rs12637875 0.50558
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_000181.4(GUSB):c.1653+151A>G rs1880555 0.49681
NM_016203.4(PRKAG2):c.114+13034A>G rs4726104 0.49619
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_000642.3(AGL):c.2950-21T>A rs2035961 0.48240
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_002591.4(PCK1):c.611-44G>C rs2070755 0.46851
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_000642.3(AGL):c.3836+45G>A rs2274570 0.46505
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_015981.4(CAMK2A):c.1238-44G>A rs2241695 0.46240
NM_000035.4(ALDOB):c.*1151A>G rs491979 0.46095
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_053013.4(ENO3):c.-3+3C>T rs366577 0.45968
NM_138775.3(ALKBH8):c.1288-3C>T rs654093 0.45699
NM_080749.4(NEURL2):c.-13C>T rs2868362 0.45384
NM_002591.4(PCK1):c.*120T>G rs1042531 0.45356
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly) rs12732924 0.45161
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_031229.4(RBCK1):c.22+33C>T rs3746792 0.44804
NM_175914.5(HNF4A):c.50-38T>C rs736824 0.44632
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_001164277.2(SLC37A4):c.-516G>A rs3759012 0.44121
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser) rs1063412 0.44041
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_032808.7(LINGO1):c.1104C>T (p.Ser368=) rs3743481 0.43645
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_012434.5(SLC17A5):c.979-87A>G rs628038 0.43140
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_018444.4(PDP1):c.*36T>C rs4735258 0.42976
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_001715.3(BLK):c.-1-53G>A rs2245250 0.41844
NM_001543.5(NDST1):c.681T>G (p.Val227=) rs2273235 0.41747
NM_001715.3(BLK):c.1313-28C>T rs10097015 0.41687
NM_001715.3(BLK):c.123+88G>T rs2245232 0.41611
NM_000035.4(ALDOB):c.800-76T>C rs506571 0.41593
NM_001739.2(CA5A):c.143-9T>A rs12922226 0.41434
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000035.4(ALDOB):c.*69C>T rs4577 0.41145
NM_000507.4(FBP1):c.567+31G>A rs3739747 0.41075
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
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_000528.4(MAN2B1):c.910-73A>G rs2303731 0.40412
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_001715.3(BLK):c.1030-38C>T rs4841561 0.38972
NM_000158.4(GBE1):c.-57G>A rs2290081 0.38912
NC_000003.12:g.171027026T>C rs5396 0.38870
NM_012434.5(SLC17A5):c.*971G>A rs670248 0.38715
NM_020066.5(FMN2):c.1413C>A (p.Ala471=) rs10926124 0.38564
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_000262.3(NAGA):c.*1333T>C rs1063392 0.38250
NM_000512.5(GALNS):c.120+1532G>C rs34150867 0.38226
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_001064.4(TKT):c.748+17C>T rs2242301 0.37137
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_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_003477.2(PDHX):c.-272G>A rs2956111 0.36407
NM_014415.4(ZBTB11):c.1624-4C>T rs11712748 0.36125
NM_000030.3(AGXT):c.595+100G>A rs12997245 0.35955
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_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483 0.35277
NM_015981.4(CAMK2A):c.1467-4A>G rs55976097 0.35152
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_020066.5(FMN2):c.2517C>G (p.Thr839=) rs10926166 0.34857
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_000308.4(CTSA):c.1359+35G>A rs7270170 0.34309
NM_000458.4(HNF1B):c.1535-177T>C rs2269841 0.34224
NM_138413.4(HOGA1):c.835-120A>G rs1124116 0.34185
NM_000458.4(HNF1B):c.1535-225_1535-224insC rs11440398 0.34179
NM_003384.3(VRK1):c.217-244T>C rs12586511 0.34167
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_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_012434.5(SLC17A5):c.1112-36G>A rs4708065 0.32463
NM_006488.3(KHK):c.*767C>T rs1131375 0.32419
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_031229.4(RBCK1):c.1029+39C>G rs6051905 0.32396
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
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_000108.5(DLD):c.438+83G>A rs17412104 0.31437
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.664-36T>C rs35087113 0.31148
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
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_000030.3(AGXT):c.846+199G>A rs13030904 0.30492
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_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_004130.4(GYG1):c.552G>A (p.Pro184=) rs4938 0.29862
NM_000289.6(PFKM):c.428-39G>A rs2269933 0.29774
NM_001366110.1(PAX4):c.*477C>T rs327520 0.29767
NM_015028.4(TNIK):c.1419+19A>G rs6444965 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_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His) rs3795677 0.29272
NM_000642.3(AGL):c.1424-44A>G rs2291638 0.29229
NM_000458.4(HNF1B):c.1535-46T>G rs2269842 0.29082
NM_000545.8(HNF1A):c.326+91A>G rs2244608 0.28699
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_000545.8(HNF1A):c.327-42G>A rs1169294 0.28559
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_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_012203.2(GRHPR):c.-92C>T rs4878690 0.27923
NM_000545.8(HNF1A):c.327-158C>T rs1169292 0.27502
NM_001160372.4(TRAPPC9):c.1134+21A>G rs3779658 0.27421
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_000291.4(PGK1):c.522-24C>T rs2007039 0.26980
NM_003051.4(SLC16A1):c.362-21A>C rs201021807 0.26702
NM_138413.4(HOGA1):c.*313A>C rs933057 0.26438
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
NM_000545.8(HNF1A):c.527-23C>T rs1169301 0.26300
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_000035.4(ALDOB):c.540+84A>C rs1929480 0.25349
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) rs8192696 0.24916
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_175914.5(HNF4A):c.*1132C>T rs6130615 0.24797
NM_138775.3(ALKBH8):c.1030+9A>G rs12574614 0.24106
NM_000642.3(AGL):c.83-33C>T rs2307129 0.24077
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_000512.5(GALNS):c.*36G>A rs11076715 0.23846
NM_002299.4(LCT):c.4465-37C>T rs2304370 0.23782
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_000162.5(GCK):c.46-4521C>A rs2070971 0.23160
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_015028.4(TNIK):c.2316C>T (p.Leu772=) rs2291900 0.22910
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
NC_000003.12:g.171027131T>G rs5393 0.22748
NM_000162.5(GCK):c.209-236G>T rs2971677 0.22722
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_012434.5(SLC17A5):c.526-106G>T rs3757111 0.22477
NM_020066.5(FMN2):c.1830A>G (p.Ser610=) rs3765588 0.22473
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_000925.4(PDHB):c.793-41G>A rs62259769 0.22293
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_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000404.4(GLB1):c.*354T>C rs12167 0.21789
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
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_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
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_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000284.4(PDHA1):c.*1377G>A rs56039350 0.20892
NM_005609.4(PYGM):c.243+48A>G rs477549 0.20413
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_000512.5(GALNS):c.1483-32G>C rs11076716 0.19802
NM_014026.6(DCPS):c.189C>T (p.Phe63=) rs695029 0.19665
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_175914.5(HNF4A):c.427-197A>C rs11574739 0.19545
NM_175914.5(HNF4A):c.427-52G>A rs3212195 0.19516
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000289.6(PFKM):c.639-85T>C rs2286020 0.19143
NM_175914.5(HNF4A):c.320-204C>G rs13041396 0.19053
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_175914.5(HNF4A):c.426+140C>G rs11574738 0.19031
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_001164277.2(SLC37A4):c.*418T>C rs11006 0.18616
NM_021957.4(GYS2):c.942-17G>A rs8192697 0.18537
NM_002299.4(LCT):c.5111+23C>T rs3213890 0.18490
NM_003477.2(PDHX):c.-124G>C rs375130125 0.18392
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590 0.18342
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000458.4(HNF1B):c.*384A>G rs1058166 0.17933
NM_014806.5(RUSC2):c.3342-10C>T rs2295842 0.17831
NM_002863.5(PYGL):c.*7G>C rs1042266 0.17763
NM_001064.4(TKT):c.749-15G>A rs17234092 0.17692
NM_002591.4(PCK1):c.282C>T (p.Ile94=) rs6070157 0.17400
NM_016203.4(PRKAG2):c.467-12630G>T rs1860746 0.17340
NM_000203.5(IDUA):c.1727+72T>G rs2305488 0.17150
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17097
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_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_012434.5(SLC17A5):c.819+52G>A rs520589 0.16798
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_012434.5(SLC17A5):c.819+79T>G rs558839 0.16769
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311 0.16645
NM_012434.5(SLC17A5):c.820-51C>G rs611580 0.16614
NM_012434.5(SLC17A5):c.978+70G>A rs610260 0.16613
NM_012434.5(SLC17A5):c.978+88C>T rs474661 0.16611
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
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_000289.6(PFKM):c.-8-86G>T rs2269935 0.16268
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698 0.16216
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_001164277.2(SLC37A4):c.-195-64C>T rs56258965 0.15980
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_175914.5(HNF4A):c.427-96C>G rs3212194 0.15252
NM_000030.3(AGXT):c.942+127C>T rs111576306 0.15015
NC_000003.12:g.171027104G>A rs5394 0.15011
NM_000175.5(GPI):c.489A>G (p.Gly163=) rs1801015 0.14862
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000203.5(IDUA):c.1524+41G>T rs188458034 0.14666
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_031229.4(RBCK1):c.261+15G>T rs11698154 0.14404
NM_000343.4(SLC5A1):c.*2245C>T rs9621386 0.14372
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_001365304.2(LOC112694756):c.*1508+17G>T rs2071390 0.13976
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_000152.5(GAA):c.2331+24T>C rs2304831 0.13841
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_000925.4(PDHB):c.935-146G>C rs6445980 0.13601
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_138801.3(GALM):c.568A>T (p.Asn190Tyr) rs6741892 0.13096
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_000030.3(AGXT):c.847-83G>T rs11894759 0.12217
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_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_000147.4(FUCA1):c.-12T>C rs2070954 0.11405
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.11282
NM_017755.6(NSUN2):c.*99G>A rs3776448 0.11157
NM_000404.4(GLB1):c.76-4426C>T rs9865342 0.11155
NM_001164277.2(SLC37A4):c.626+19C>T rs741811 0.11102
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_005609.4(PYGM):c.2313-47T>C rs569602 0.10954
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_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_001360016.2(G6PD):c.121-135A>G rs762515 0.10367
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
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_015028.4(TNIK):c.2682C>T (p.Ser894=) rs16855789 0.09929
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_000175.5(GPI):c.762G>A (p.Lys254=) rs1864139 0.09803
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_001360016.2(G6PD):c.864+163C>T rs5986990 0.09646
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_000152.5(GAA):c.693-49C>T rs78855075 0.09045
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_005609.4(PYGM):c.1768+51C>T rs686171 0.08974
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
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_003384.3(VRK1):c.1159+43C>G rs45457797 0.08564
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_000458.4(HNF1B):c.1654-106C>T rs8066605 0.08136
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_175914.5(HNF4A):c.670+196G>A rs11086925 0.07736
NM_002103.5(GYS1):c.-125C>T rs2287754 0.07560
NM_000035.4(ALDOB):c.*206C>A rs17772869 0.07315
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000404.4(GLB1):c.734-112T>C rs80059915 0.07289
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_000925.4(PDHB):c.701-41G>A rs4585221 0.06991
NM_198586.3(NHLRC1):c.*336G>A rs10949482 0.06918
NM_000404.4(GLB1):c.1561= (p.Cys521=) rs4302331 0.06888
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_001931.5(DLAT):c.975+16G>T rs539991 0.06626
NM_000046.5(ARSB):c.*1469C>T rs55710452 0.06599
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_000152.5(GAA):c.2040+66C>T rs2304835 0.06422
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
NC_000008.11:g.11573132C>T rs61199332 0.06287
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_000289.6(PFKM):c.427+52G>A rs41291961 0.06210
NM_000458.4(HNF1B):c.1534+252G>C rs72830475 0.06206
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr) rs17857452 0.06173
NM_000289.6(PFKM):c.1880+32G>C rs4075914 0.06152
NM_000158.4(GBE1):c.*152C>A rs9820089 0.06146
NM_000152.5(GAA):c.2040+69A>G rs2304834 0.06120
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_198586.3(NHLRC1):c.*626C>T rs10949480 0.06100
NM_000458.4(HNF1B):c.344+228G>C rs113656333 0.06093
NM_000458.4(HNF1B):c.345-228C>G rs75979306 0.06037
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_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_000152.5(GAA):c.1636+43G>T rs2304842 0.05728
NM_001041.4(SI):c.4779T>C (p.Phe1593=) rs78428100 0.05635
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467 0.05609
NM_016302.4(CRBN):c.735T>C (p.Tyr245=) rs17027638 0.05605
NM_000308.4(CTSA):c.219C>G (p.Pro73=) rs742035 0.05580
NM_000152.5(GAA):c.*3G>A rs1800317 0.05534
NM_012434.5(SLC17A5):c.979-33G>A rs12199937 0.05489
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_012434.5(SLC17A5):c.292-22T>C rs12206001 0.05386
NM_000035.4(ALDOB):c.*122G>A rs41310087 0.05383
NM_000642.3(AGL):c.3700+32T>C rs834575 0.05338
NM_000152.5(GAA):c.1888+21G>A rs2304837 0.05276
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser) rs9917722 0.05238
NM_001041.4(SI):c.5197+8C>T rs6799858 0.05235
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
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_000512.5(GALNS):c.898+42G>C rs76095307 0.05085
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_020066.5(FMN2):c.3216G>A (p.Ala1072=) rs71646895 0.04951
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
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_000891.3(KCNJ2):c.*2752T>C rs993085233 0.04719
NM_001360016.2(G6PD):c.486-60C>G rs2515904 0.04673
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_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_000155.4(GALT):c.507+62G>A rs2277202 0.04610
NM_002863.5(PYGL):c.93T>C (p.Ser31=) rs17123244 0.04608
NM_152419.3(HGSNAT):c.*1216G>A rs73569597 0.04598
NM_024989.4(PGAP1):c.1862-3C>T rs73988069 0.04584
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_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_000891.3(KCNJ2):c.*2758T>C rs1324652195 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_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
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_000152.5(GAA):c.1754+104C>G rs2304839 0.04194
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
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_000152.5(GAA):c.2189+95C>T rs72850840 0.04030
NM_004130.4(GYG1):c.114C>T (p.Leu38=) rs61733452 0.04021
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_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
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_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_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03592
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_001352514.2(HLCS):c.1960+16T>A rs73398135 0.03462
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_000199.5(SGSH):c.664-50G>A rs117217614 0.03422
NM_002294.3(LAMP2):c.*1071G>T rs2285548 0.03391
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) rs74041853 0.03363
NM_000035.4(ALDOB):c.-10-209A>G rs113443424 0.03318
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_000046.5(ARSB):c.*202A>G rs73770019 0.03289
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_002299.4(LCT):c.4977-26T>C rs3213891 0.03191
NM_002294.3(LAMP2):c.*1589A>G rs73612906 0.03180
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03133
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_031229.4(RBCK1):c.144G>A (p.Glu48=) rs41281892 0.03013
NM_000292.3(PHKA2):c.2361-12A>C rs148877451 0.02944
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_053013.4(ENO3):c.1236-17C>T rs77614413 0.02756
NM_053013.4(ENO3):c.240+17G>A rs75279666 0.02755
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_002591.4(PCK1):c.1102G>A (p.Val368Ile) rs1804160 0.02728
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_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 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_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691 0.02685
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_006859.4(LIAS):c.737+13A>T rs79572060 0.02580
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032 0.02579
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
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_000545.8(HNF1A):c.1501+68A>G rs55919842 0.02520
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_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_000199.5(SGSH):c.249+52G>A rs113672699 0.02447
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_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) rs77325391 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_000891.3(KCNJ2):c.*1596A>C rs117409545 0.02347
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_024989.4(PGAP1):c.534T>G (p.Leu178=) rs35444896 0.02335
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_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_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
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_021957.4(GYS2):c.1245C>G (p.Asp415Glu) rs16924002 0.02117
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_002863.5(PYGL):c.772+16G>T rs17123173 0.02096
NM_006488.3(KHK):c.*806G>A rs113859516 0.02073
NM_000175.5(GPI):c.122+20G>A rs8191360 0.02067
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_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_000289.6(PFKM):c.1500+32C>T rs41291967 0.02028
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_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
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_000642.3(AGL):c.3588+36T>G rs548255 0.01966
NM_002300.8(LDHB):c.879A>G (p.Pro293=) rs4828 0.01958
NM_000154.2(GALK1):c.611+34G>A rs76743658 0.01955
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_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_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_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_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_002076.4(GNS):c.*1456C>T rs144199387 0.01725
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_001807.6(CEL):c.353T>G (p.Leu118Arg) rs113056079 0.01720
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=) rs34871377 0.01714
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_175914.5(HNF4A):c.*2533G>A rs76705771 0.01679
NM_001739.2(CA5A):c.645C>T (p.Phe215=) rs149154082 0.01677
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_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070 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_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
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_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
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_000642.3(AGL):c.82+1565T>G rs145049634 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_000175.5(GPI):c.948C>A (p.Ala316=) rs8191416 0.01510
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
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_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_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_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284 0.01392
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_024989.4(PGAP1):c.2007C>T (p.Ala669=) rs149815494 0.01375
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
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_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_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
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_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_000343.4(SLC5A1):c.*1508C>A rs8142324 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_001164277.2(SLC37A4):c.626+14C>T rs56394886 0.01293
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_002294.3(LAMP2):c.*2518A>G rs56158197 0.01287
NM_153281.2(HYAL1):c.-414G>A rs587609136 0.01280
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
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_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765 0.01233
NM_001164277.2(SLC37A4):c.149-14A>G rs79849261 0.01232
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_003619.4(PRSS12):c.1272T>G (p.Val424=) rs2292598 0.01208
NM_175914.5(HNF4A):c.319+19C>T rs112386711 0.01208
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
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_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) rs11302 0.01176
NM_000292.3(PHKA2):c.718-3C>T rs140662042 0.01175
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
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_012096.3(APPL1):c.69A>G (p.Leu23=) rs11544592 0.01160
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.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_153281.2(HYAL1):c.-271G>A rs115085570 0.01118
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=) rs74459402 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_012096.3(APPL1):c.1002C>G (p.Asp334Glu) rs61735096 0.01069
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_000528.4(MAN2B1):c.2436+17C>T rs148420017 0.01054
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_000343.4(SLC5A1):c.*2244C>T rs114700055 0.01052
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 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_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
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_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_006516.4(SLC2A1):c.973-17A>G rs111596088 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.1002+17C>T rs78494153 0.01020
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_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_004130.4(GYG1):c.319-12C>T rs114156848 0.00990
NM_000046.5(ARSB):c.*2859T>C rs116826065 0.00988
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
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_031229.4(RBCK1):c.757-15G>C rs200457271 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_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_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
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_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452 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_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_000293.3(PHKB):c.870+17T>C rs75918606 0.00923
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_001360016.2(G6PD):c.645-17C>T rs5986875 0.00915
NM_000199.5(SGSH):c.*201A>T rs139066649 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_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_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_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00862
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_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_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615 0.00845
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000340.2(SLC2A2):c.*325T>A rs189555280 0.00832
NM_000545.8(HNF1A):c.326+241T>C rs575098936 0.00832
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
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_001365304.2(LOC112694756):c.*889-16C>A rs78124282 0.00797
NM_002076.4(GNS):c.*1228C>T rs115625510 0.00797
NM_002076.4(GNS):c.*1648C>T rs75568735 0.00795
NM_004130.4(GYG1):c.159A>G (p.Thr53=) rs148619511 0.00795
NM_053013.4(ENO3):c.1041C>T (p.Ile347=) rs114208569 0.00794
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_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_002299.4(LCT):c.4347T>C (p.Phe1449=) rs17699796 0.00774
NM_000545.8(HNF1A):c.326+20C>A rs80051981 0.00772
NM_000340.2(SLC2A2):c.*1349C>T rs112957674 0.00770
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000458.4(HNF1B):c.345-19C>T rs59527848 0.00765
NM_000343.4(SLC5A1):c.1130-9C>T rs33914280 0.00761
NM_001352514.2(HLCS):c.494-13A>G rs76785742 0.00759
NM_002300.8(LDHB):c.421+13A>G rs76163762 0.00759
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
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_000162.5(GCK):c.864-105G>A rs139242745 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_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
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_001370658.1(BTD):c.142A>G (p.Ile48Val) rs114092911 0.00722
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448 0.00719
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324 0.00717
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_175914.5(HNF4A):c.*3086C>T rs551080524 0.00706
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_003041.4(SLC5A2):c.60T>C (p.Ile20=) rs114050461 0.00699
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
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_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_033159.4(HYAL1):c.*221T>C rs192692460 0.00675
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
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_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166 0.00663
NM_000343.4(SLC5A1):c.*1432G>T rs28540121 0.00663
NM_198586.3(NHLRC1):c.*344A>T rs147528518 0.00663
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751 0.00662
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
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_024989.4(PGAP1):c.1952+10A>C rs7609297 0.00652
NM_002294.3(LAMP2):c.*3459G>T rs185990694 0.00648
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455 0.00647
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_000162.5(GCK):c.46-4952G>A rs76178320 0.00639
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
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_000404.4(GLB1):c.793-19C>T rs114082733 0.00619
NM_017755.6(NSUN2):c.-27C>A rs190264173 0.00619
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_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
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_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
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_000545.8(HNF1A):c.1309+52C>T rs56031130 0.00583
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_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_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00558
NM_000151.4(G6PC1):c.340+42C>T rs116797100 0.00549
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
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_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
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_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929 0.00520
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
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_000030.3(AGXT):c.680+130C>T rs78178548 0.00508
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_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) rs35010660 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_000458.4(HNF1B):c.-67C>T rs140699244 0.00491
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00489
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_006755.2(TALDO1):c.801C>T (p.Asn267=) rs142263629 0.00483
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_016203.4(PRKAG2):c.1234-317T>G rs141541040 0.00473
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_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 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_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 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_000293.3(PHKB):c.1126+14T>G rs28691569 0.00450
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
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_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_000343.4(SLC5A1):c.*2275C>T rs144145176 0.00438
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_006765.4(TUSC3):c.862+19G>A rs144272482 0.00435
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=) rs139255194 0.00433
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_000925.4(PDHB):c.303+16T>C rs75014325 0.00417
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_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=) rs12000048 0.00411
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162 0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974 0.00409
NM_175914.5(HNF4A):c.583-27G>A rs113495257 0.00408
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_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
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_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_000404.4(GLB1):c.*182A>G rs76762176 0.00393
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 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_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
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_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405 0.00373
NM_003597.5(KLF11):c.*262C>T rs147746428 0.00373
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) rs145771944 0.00369
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
NM_004130.4(GYG1):c.608+14G>C rs200902926 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_006569.6(CGREF1):c.*516C>T rs114062151 0.00364
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 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_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018 0.00357
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169 0.00351
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
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_000108.5(DLD):c.1236+13A>G rs2701026 0.00341
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_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825 0.00332
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247 0.00332
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
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_016219.5(MAN1B1):c.220-20A>C rs116149955 0.00326
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
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_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_001739.2(CA5A):c.340+20C>G rs141166711 0.00319
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_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_001352514.2(HLCS):c.1893-6C>T rs139904712 0.00313
NM_002299.4(LCT):c.2763G>A (p.Ala921=) rs116951780 0.00313
NM_000284.4(PDHA1):c.510+12C>T rs201869402 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_000512.5(GALNS):c.759-67G>A rs565875595 0.00305
NM_003597.5(KLF11):c.*980T>C rs113527829 0.00303
NM_016219.5(MAN1B1):c.1065+16T>A rs200957986 0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
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_000292.3(PHKA2):c.2806+13C>A rs186550641 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_001352514.2(HLCS):c.2451-19C>T rs78671947 0.00290
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_006488.3(KHK):c.811+5G>C rs7578864 0.00289
NM_000294.3(PHKG2):c.927+17C>G rs143558058 0.00288
NM_000035.4(ALDOB):c.*189C>T rs185986022 0.00287
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_001008216.2(GALE):c.873+20C>T rs141022680 0.00283
NM_024989.4(PGAP1):c.906T>C (p.Leu302=) rs138525017 0.00283
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) rs139803629 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538 0.00279
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_053013.4(ENO3):c.1067+18C>T rs191862496 0.00268
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_001040716.2(PC):c.321+5G>A rs200766019 0.00264
NM_002637.4(PHKA1):c.*804C>T rs144538626 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_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 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_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
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_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018 0.00250
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_002294.3(LAMP2):c.*1356C>G rs188897063 0.00249
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
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_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 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_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171 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.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=) rs145589373 0.00232
NM_001352514.2(HLCS):c.900G>A (p.Arg300=) rs146019354 0.00232
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
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_000162.5(GCK):c.483+14A>G rs74852379 0.00229
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_001370658.1(BTD):c.1002G>A (p.Thr334=) rs148764524 0.00228
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
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_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 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_000545.8(HNF1A):c.252C>T (p.Pro84=) rs78772552 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
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_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970 0.00208
NM_000284.4(PDHA1):c.*857A>G rs182836908 0.00208
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00208
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232 0.00206
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_006516.4(SLC2A1):c.*1588G>A rs189700252 0.00206
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_000289.6(PFKM):c.2199-12A>G rs202008060 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_175914.5(HNF4A):c.*1293C>T rs182919150 0.00201
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205 0.00200
NM_001739.2(CA5A):c.882G>A (p.Ala294=) rs150891997 0.00200
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888 0.00197
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049 0.00192
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) rs112176097 0.00191
NM_175914.5(HNF4A):c.*76G>A rs11574743 0.00191
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_053013.4(ENO3):c.828C>T (p.Leu276=) rs35119507 0.00190
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_004130.4(GYG1):c.609G>A (p.Val203=) rs75445811 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_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265 0.00187
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 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_001008216.2(GALE):c.237+11G>A rs201276934 0.00183
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_002637.4(PHKA1):c.*500C>A rs148465718 0.00179
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_002294.3(LAMP2):c.*3583A>G rs144504054 0.00178
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser) rs201961848 0.00176
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=) rs34025424 0.00176
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp) rs139290127 0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_000035.4(ALDOB):c.*1003A>G rs80292759 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845 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_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_001008216.2(GALE):c.529-12C>T rs369293480 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=) rs111603166 0.00164
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_006516.4(SLC2A1):c.*626G>A rs6413525 0.00163
NM_021957.4(GYS2):c.1389T>C (p.Ile463=) rs146434233 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_175914.5(HNF4A):c.*1783G>T rs564110189 0.00161
NM_000108.5(DLD):c.338-18T>A rs184851386 0.00160
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_001008216.2(GALE):c.709+18G>A rs200584878 0.00158
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_003597.5(KLF11):c.*2144C>T rs139703378 0.00157
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00156
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_001040716.2(PC):c.2223+19C>T rs45457699 0.00153
NM_031229.4(RBCK1):c.168-20G>T rs149174797 0.00153
NM_003597.5(KLF11):c.*2026G>C rs146068438 0.00152
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018 0.00151
NM_000642.3(AGL):c.3792A>T (p.Gly1264=) rs148606237 0.00151
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_006859.4(LIAS):c.393+8C>A rs201574806 0.00149
NM_000147.5(FUCA1):c.389+14C>T rs553138426 0.00148
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_024989.4(PGAP1):c.1351-16A>G rs377329019 0.00148
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583 0.00147
NM_175914.5(HNF4A):c.*446G>A rs548013860 0.00147
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537 0.00146
NM_000291.4(PGK1):c.171G>A (p.Ser57=) rs78165041 0.00145
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127 0.00145
NM_000891.3(KCNJ2):c.*732T>G rs150985434 0.00145
NM_005609.4(PYGM):c.424+17G>A rs202244109 0.00145
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
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_000154.2(GALK1):c.611+18C>T rs188851202 0.00140
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_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) rs139852230 0.00136
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_001739.2(CA5A):c.788G>A (p.Arg263His) rs201195769 0.00131
NM_024989.4(PGAP1):c.649+11T>A rs181229301 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_053013.4(ENO3):c.1176+8T>C rs111926990 0.00128
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948 0.00126
NM_000292.3(PHKA2):c.1964-7A>G rs376658808 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_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_000027.4(AGA):c.*882A>C rs3749479 0.00124
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_005566.4(LDHA):c.*243C>G rs76818137 0.00121
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00120
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357 0.00120
NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys) rs144570979 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000162.5(GCK):c.364-18A>G rs191255582 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_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001 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_024989.4(PGAP1):c.1729-12G>A rs75342998 0.00116
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=) rs141034910 0.00115
NM_000545.6(HNF1A):c.-527C>T rs3809315 0.00115
NM_000642.3(AGL):c.2949+20C>T rs201729914 0.00114
NM_000154.2(GALK1):c.1167G>A (p.Val389=) rs150586960 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_005566.4(LDHA):c.183G>A (p.Glu61=) rs149588992 0.00113
NM_000284.4(PDHA1):c.*1345A>G rs193253848 0.00110
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813 0.00109
NM_000293.3(PHKB):c.270C>T (p.Cys90=) rs139431568 0.00109
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_012096.3(APPL1):c.219T>C (p.Phe73=) rs150282222 0.00108
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677 0.00107
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158 0.00106
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
NM_000292.3(PHKA2):c.3336+17G>A rs199840021 0.00106
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_001352514.2(HLCS):c.2121+11T>A rs371974889 0.00105
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_006516.4(SLC2A1):c.*346G>A rs190760291 0.00104
NM_000035.4(ALDOB):c.324+8C>G rs118168553 0.00103
NM_001040716.2(PC):c.1604-17G>A rs79317761 0.00103
NM_175914.5(HNF4A):c.*1013G>A rs767537996 0.00103
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=) rs148153758 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_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_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
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_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 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_000292.3(PHKA2):c.1042-17A>G rs368817576 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_198586.3(NHLRC1):c.*886G>A rs146342540 0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp) rs140175164 0.00092
NM_021957.4(GYS2):c.1701G>A (p.Leu567=) rs78337075 0.00092
NM_031229.4(RBCK1):c.1030-18G>A rs369024234 0.00092
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390 0.00091
NM_002637.4(PHKA1):c.238-4G>A rs782186877 0.00089
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000108.5(DLD):c.1464+11A>G rs184949878 0.00088
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000293.3(PHKB):c.2532G>A (p.Glu844=) rs140117779 0.00088
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003 0.00088
NM_000151.4(G6PC1):c.562+10G>A rs199505156 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_175914.5(HNF4A):c.*3153C>A rs569302875 0.00087
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val) rs150288967 0.00086
NM_000545.8(HNF1A):c.156C>T (p.Gly52=) rs150195625 0.00086
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_031229.4(RBCK1):c.1453-10C>T rs112086441 0.00086
NM_000203.5(IDUA):c.1190-19G>C rs1285206431 0.00085
NM_001739.2(CA5A):c.555+12C>G rs183776303 0.00085
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
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_000292.3(PHKA2):c.2172T>C (p.Ser724=) rs144151433 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000545.8(HNF1A):c.155G>C (p.Gly52Ala) rs142318174 0.00083
NM_001040716.2(PC):c.904-17C>T rs199565222 0.00083
NM_002294.3(LAMP2):c.-33C>T rs368403767 0.00083
NM_006516.4(SLC2A1):c.*571C>T rs6413524 0.00083
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603 0.00082
NM_000152.5(GAA):c.1755-18T>C rs201399518 0.00082
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000292.3(PHKA2):c.3112-14T>C rs371304628 0.00081
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352 0.00081
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001360016.2(G6PD):c.311G>A (p.Arg104His) rs181277621 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_031229.4(RBCK1):c.150C>T (p.Ser50=) rs149008463 0.00081
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00078
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000507.4(FBP1):c.345G>A (p.Val115=) rs61753273 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_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_001931.5(DLAT):c.506+11C>T rs77846695 0.00077
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met) rs148176463 0.00075
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=) rs139564374 0.00073
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00072
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_001807.6(CEL):c.1485-8C>T rs185188893 0.00072
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=) rs150671256 0.00070
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=) rs151306710 0.00070
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_002294.3(LAMP2):c.*3687T>C rs185627568 0.00067
NM_021957.4(GYS2):c.304-17T>C rs3765094 0.00067
NM_000035.4(ALDOB):c.325-19T>G rs200798661 0.00066
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000404.4(GLB1):c.1833G>A (p.Ser611=) rs201755284 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 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_001040716.2(PC):c.2856C>T (p.Ile952=) rs183661331 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_000154.2(GALK1):c.611+9C>T rs370204015 0.00064
NM_016219.5(MAN1B1):c.1765-17C>T rs569907992 0.00064
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000262.3(NAGA):c.760-7C>A rs150693978 0.00063
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573 0.00063
NM_000507.4(FBP1):c.334-15T>C rs370920869 0.00063
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) rs201573707 0.00063
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=) rs145964630 0.00063
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085 0.00063
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala) rs201838518 0.00062
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=) rs146134171 0.00061
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_000545.8(HNF1A):c.210C>T (p.Ser70=) rs146686581 0.00061
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_002294.3(LAMP2):c.504C>T (p.Tyr168=) rs150520869 0.00060
NM_005327.7(HADH):c.710-845C>G rs201019894 0.00060
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) rs141251024 0.00059
NM_000284.4(PDHA1):c.604-10C>T rs201754585 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_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00056
NM_002500.4(NEUROD1):c.*1339T>C rs17847284 0.00056
NM_002637.4(PHKA1):c.2918-4A>G rs184136158 0.00056
NM_005908.4(MANBA):c.2014+14C>T rs192469727 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_002637.4(PHKA1):c.2229+15G>T rs552106907 0.00055
NM_002863.5(PYGL):c.1827+11T>A rs189147741 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_005908.4(MANBA):c.2415+19G>A rs148719555 0.00054
NM_022895.3(C12orf43):c.*2022C>T rs751401246 0.00054
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=) rs139774349 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 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_000035.4(ALDOB):c.799+11C>T rs182245025 0.00051
NM_001931.5(DLAT):c.1815-15T>C rs192297571 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NR_184036.1(R3HDML-AS1):n.3A>G rs377144780 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_002103.5(GYS1):c.492+9C>T rs191213443 0.00050
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000199.5(SGSH):c.746-16C>T rs376577518 0.00049
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042 0.00049
NM_012434.5(SLC17A5):c.1112-18A>G rs751782561 0.00049
NM_002637.4(PHKA1):c.1740A>G (p.Ser580=) rs143064948 0.00047
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000545.8(HNF1A):c.1502-7C>T rs193922581 0.00046
NM_022895.3(C12orf43):c.*1891G>A rs568653423 0.00046
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_002103.5(GYS1):c.-19C>A rs2287753 0.00045
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) rs149276836 0.00045
NM_003597.5(KLF11):c.*612C>T rs187519040 0.00045
NM_022895.3(C12orf43):c.*1649G>A rs56335342 0.00045
NM_024989.4(PGAP1):c.1220+19T>C rs142559942 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_000147.5(FUCA1):c.969+18T>A rs140246387 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 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_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser) rs147312612 0.00041
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702 0.00040
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu) rs17856445 0.00039
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) rs199608903 0.00039
NM_175914.5(HNF4A):c.*2153T>C rs760628227 0.00039
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000162.5(GCK):c.*764C>T rs185418856 0.00038
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr) rs150445034 0.00037
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00036
NM_000284.4(PDHA1):c.899+12G>A rs376730441 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_001739.2(CA5A):c.172G>A (p.Val58Met) rs200539625 0.00036
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891 0.00035
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_000891.3(KCNJ2):c.*996C>T rs77958248 0.00035
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 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_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238 0.00034
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=) rs139927561 0.00034
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_000891.3(KCNJ2):c.*35A>C rs72552029 0.00033
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838 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_001352514.2(HLCS):c.2544C>T (p.Gly848=) rs142437842 0.00032
NM_024989.4(PGAP1):c.2630+15T>C rs375452864 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_000365.6(TPI1):c.*388C>T rs540279409 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_003619.4(PRSS12):c.1144C>T (p.Leu382=) rs146677360 0.00031
NM_005609.4(PYGM):c.1519-12G>A rs373078258 0.00031
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys) rs148518827 0.00031
NM_021957.4(GYS2):c.1251C>T (p.Asn417=) rs139882761 0.00031
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000545.5(HNF1A):c.-467C>T rs1039479235 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000925.4(PDHB):c.204+9A>C rs202068841 0.00029
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026 0.00028
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_012203.2(GRHPR):c.387C>A (p.Ala129=) rs529454212 0.00028
NM_022895.3(C12orf43):c.*1917C>T rs1039799815 0.00028
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000155.4(GALT):c.253-5G>A rs762136953 0.00026
NM_000284.4(PDHA1):c.117+19T>A rs373859720 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_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.1207-18T>C rs199849203 0.00026
NM_000507.4(FBP1):c.906C>T (p.Ala302=) rs28369776 0.00026
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545 0.00026
NM_004130.4(GYG1):c.60G>A (p.Leu20=) rs145419359 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_175914.5(HNF4A):c.*547G>A rs1031904976 0.00026
NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=) rs139231189 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000528.4(MAN2B1):c.1419+16C>A rs572897959 0.00024
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe) rs202120724 0.00024
NM_016219.5(MAN1B1):c.1445+19C>T rs374413288 0.00024
NM_175914.5(HNF4A):c.582+20G>C rs370794722 0.00024
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305 0.00023
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=) rs369973813 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu) rs201735305 0.00023
NM_004130.4(GYG1):c.1041T>A (p.Thr347=) rs202027758 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_000284.4(PDHA1):c.899+18G>A rs370785632 0.00022
NM_000458.4(HNF1B):c.852C>T (p.His284=) rs149581999 0.00022
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=) rs111252736 0.00022
NM_001715.3(BLK):c.1349G>A (p.Arg450His) rs202162624 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 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_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00021
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) rs143689867 0.00021
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_004130.4(GYG1):c.829-13G>A rs188887329 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_175914.5(HNF4A):c.427-4G>A rs146751799 0.00021
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000434.4(NEU1):c.*581G>A rs551222239 0.00020
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_001360016.2(G6PD):c.486-14C>T rs200833520 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_022895.3(C12orf43):c.*1796G>A rs927067298 0.00020
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=) rs193922403 0.00019
NM_000365.6(TPI1):c.116-12T>C rs369077745 0.00019
NM_000528.4(MAN2B1):c.1110-15C>T rs202085731 0.00019
NM_000545.8(HNF1A):c.1623+23C>T rs201167179 0.00019
NM_000545.8(HNF1A):c.1624-30C>T rs563879035 0.00019
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273 0.00019
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=) rs200761497 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_022895.3(C12orf43):c.*2514A>T rs143731661 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.493+13T>A rs201688937 0.00019
NM_175914.5(HNF4A):c.*3013A>G rs773868595 0.00019
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018
NM_000162.5(GCK):c.208+16C>T rs377747439 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000289.6(PFKM):c.844-17T>A rs372870462 0.00018
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602 0.00018
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488 0.00018
NM_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
NM_002294.3(LAMP2):c.*477T>C rs750939378 0.00018
NM_006765.4(TUSC3):c.568-15A>G rs186717319 0.00018
NM_000162.5(GCK):c.-17C>T rs190731555 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000545.8(HNF1A):c.1500C>T (p.His500=) rs201694197 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_001360016.2(G6PD):c.381C>T (p.Ala127=) rs781997962 0.00017
NM_000152.5(GAA):c.2799+19G>A rs558187268 0.00016
NM_000162.5(GCK):c.735G>A (p.Glu245=) rs775481896 0.00016
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) rs142248439 0.00016
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00016
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00016
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000458.4(HNF1B):c.*403A>G rs557216745 0.00016
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515 0.00016
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_021957.4(GYS2):c.1063-15C>G rs150691568 0.00016
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val) rs138036688 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_000046.5(ARSB):c.750A>G (p.Glu250=) rs200985327 0.00015
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 0.00015
NM_000155.4(GALT):c.564+15G>A rs111033732 0.00015
NM_000162.5(GCK):c.364-13G>A rs372405219 0.00015
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 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_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000284.4(PDHA1):c.1008+7T>G rs768994523 0.00014
NM_000293.3(PHKB):c.76+2537G>A rs145777693 0.00014
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=) rs148720069 0.00014
NM_000525.4(KCNJ11):c.*697G>A rs117976105 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_001040716.2(PC):c.1494A>G (p.Gln498=) rs761935997 0.00014
NM_002294.3(LAMP2):c.*3452T>C rs752469856 0.00014
NM_002294.3(LAMP2):c.1093+2478A>G rs140936359 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 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_031229.4(RBCK1):c.957G>A (p.Ala319=) rs148685980 0.00014
NM_152419.3(HGSNAT):c.821-28T>C rs201415703 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_000151.4(G6PC1):c.*1304G>A rs549833149 0.00013
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000284.4(PDHA1):c.292-5C>T rs191666624 0.00013
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=) rs748792637 0.00013
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp) rs114202595 0.00013
NM_002637.4(PHKA1):c.718-12C>A rs782227106 0.00013
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_017755.6(NSUN2):c.*563C>T rs374769713 0.00013
NM_022895.3(C12orf43):c.*2340G>A rs1026422272 0.00013
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=) rs374678391 0.00013
NM_175914.5(HNF4A):c.*1363C>T rs769165584 0.00013
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263 0.00012
NM_000284.4(PDHA1):c.*707G>A rs150945967 0.00012
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654 0.00012
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886 0.00012
NM_000292.3(PHKA2):c.1246-12C>T rs759418361 0.00012
NM_000293.3(PHKB):c.1350C>T (p.Ile450=) rs199941695 0.00012
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=) rs148709879 0.00012
NM_002294.3(LAMP2):c.1162G>T (p.Val388Leu) rs372906565 0.00012
NM_004130.4(GYG1):c.499C>T (p.Leu167=) rs551623234 0.00012
NM_021957.4(GYS2):c.1549+19G>A rs369697631 0.00012
NM_024989.4(PGAP1):c.2287-11A>G rs369759909 0.00012
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00011
NM_000202.8(IDS):c.236C>G (p.Ala79Gly) rs368513342 0.00011
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487 0.00011
NM_000284.4(PDHA1):c.*1450C>T rs747229060 0.00011
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile) rs33918436 0.00011
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00011
NM_000545.8(HNF1A):c.1624-19G>A rs193922586 0.00011
NM_000891.3(KCNJ2):c.-349C>A rs370696463 0.00011
NM_002500.5(NEUROD1):c.*1033T>G rs555224400 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_006859.4(LIAS):c.393+10G>A rs372094616 0.00011
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949 0.00011
NM_022895.3(C12orf43):c.*2096C>T rs571134960 0.00011
NM_175914.5(HNF4A):c.*2374G>C rs373068234 0.00011
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_000642.3(AGL):c.2192C>T (p.Ala731Val) rs542485403 0.00010
NM_001360016.2(G6PD):c.519C>T (p.Phe173=) rs200111236 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu) rs76672402 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_031229.4(RBCK1):c.1308+20G>A rs141923181 0.00010
NM_000027.4(AGA):c.807-12dup rs749999445 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_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00009
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) rs369893708 0.00009
NM_000404.4(GLB1):c.1192A>G (p.Ile398Val) rs199692082 0.00009
NM_000404.4(GLB1):c.1234-17A>T rs185922201 0.00009
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 0.00009
NM_000545.8(HNF1A):c.225C>T (p.Asp75=) rs202180554 0.00009
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_001040716.2(PC):c.2586T>C (p.Tyr862=) rs191620803 0.00009
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=) rs370117126 0.00009
NM_002294.3(LAMP2):c.*2005C>G rs200014321 0.00009
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) rs752321157 0.00009
NM_006516.4(SLC2A1):c.*463T>C rs186437621 0.00009
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_138413.4(HOGA1):c.284G>A (p.Arg95His) rs754634699 0.00009
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000284.4(PDHA1):c.418+8G>A rs779583146 0.00008
NM_000284.4(PDHA1):c.708G>A (p.Ala236=) rs750307419 0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000507.4(FBP1):c.826-9G>C rs200948424 0.00008
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101 0.00008
NM_000545.8(HNF1A):c.1309+247G>A rs587777934 0.00008
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=) rs370300688 0.00008
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_001360016.2(G6PD):c.120+7A>C rs369904290 0.00008
NM_002076.4(GNS):c.193-9C>T rs372633889 0.00008
NM_002103.5(GYS1):c.987C>T (p.Ala329=) rs180906371 0.00008
NM_002294.3(LAMP2):c.*2794T>C rs368937075 0.00008
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=) rs368071005 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347 0.00008
NM_031229.4(RBCK1):c.738G>T (p.Ala246=) rs2281553 0.00008
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00008
NM_000027.4(AGA):c.622+20G>T rs200102826 0.00007
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=) rs773338429 0.00007
NM_000284.4(PDHA1):c.217C>A (p.Arg73=) rs761538559 0.00007
NM_000292.3(PHKA2):c.1793+18T>A rs567115484 0.00007
NM_000545.8(HNF1A):c.42G>A (p.Ala14=) rs775391034 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001040716.2(PC):c.322-10C>T rs371834866 0.00007
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298 0.00007
NM_175914.5(HNF4A):c.*3018G>A rs533361991 0.00007
NM_175914.5(HNF4A):c.1064-19C>T rs202202465 0.00007
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.858+24G>C rs770608668 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_000162.5(GCK):c.561C>T (p.Asp187=) rs754722633 0.00006
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000202.8(IDS):c.27C>T (p.Gly9=) rs782412902 0.00006
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000458.4(HNF1B):c.948C>T (p.Asp316=) rs373132003 0.00006
NM_000507.4(FBP1):c.798C>T (p.Pro266=) rs142811660 0.00006
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000545.8(HNF1A):c.954C>T (p.His318=) rs193922607 0.00006
NM_000545.8(HNF1A):c.99G>A (p.Pro33=) rs538619966 0.00006
NM_001040716.2(PC):c.3042C>T (p.Pro1014=) rs370090137 0.00006
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=) rs548505968 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_001739.2(CA5A):c.543C>T (p.Gly181=) rs534860826 0.00006
NM_002076.4(GNS):c.876-13T>C rs543570530 0.00006
NM_002294.3(LAMP2):c.*2183T>C rs765214315 0.00006
NM_002294.3(LAMP2):c.1094-4C>T rs768756537 0.00006
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) rs17721570 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_003597.5(KLF11):c.1450G>A (p.Gly484Ser) rs750063435 0.00006
NM_005566.4(LDHA):c.710+9T>A rs182873744 0.00006
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) rs761847384 0.00006
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346 0.00006
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 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.427-16C>T rs535994220 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000202.8(IDS):c.1158C>T (p.Ser386=) rs372340411 0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 0.00005
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.868G>A (p.Val290Met) rs782479238 0.00005
NM_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00005
NM_000284.4(PDHA1):c.1009-9A>C rs372177460 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000545.8(HNF1A):c.1624-29G>A rs532689884 0.00005
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=) rs67120636 0.00005
NM_001014436.3(DBNL):c.*2017A>G rs367994618 0.00005
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser) rs782308530 0.00005
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn) rs5030870 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_001715.3(BLK):c.369-2A>G rs137986278 0.00005
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) rs397516735 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met) rs558586992 0.00005
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_175914.5(HNF4A):c.50-4496C>T rs189943469 0.00005
NM_175914.5(HNF4A):c.670+7C>T rs376544046 0.00005
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000162.5(GCK):c.363+6C>A rs751756042 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000202.8(IDS):c.1290G>A (p.Glu430=) rs140633427 0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000289.6(PFKM):c.468G>C (p.Leu156=) rs772301967 0.00004
NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=) rs768419165 0.00004
NM_000293.3(PHKB):c.*148T>A rs368887864 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His) rs774714794 0.00004
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057 0.00004
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.527-18G>A rs375259151 0.00004
NM_000642.3(AGL):c.2280C>T (p.Ser760=) rs373513564 0.00004
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00004
NM_002637.4(PHKA1):c.750A>G (p.Ser250=) rs201801654 0.00004
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_005327.7(HADH):c.324C>T (p.Ser108=) rs373153417 0.00004
NM_005327.7(HADH):c.384C>T (p.Asn128=) rs369550874 0.00004
NM_005327.7(HADH):c.795C>T (p.Val265=) rs143416676 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_006488.3(KHK):c.*554C>T rs558714226 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 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_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=) rs201735117 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) rs587637619 0.00004
NM_175914.5(HNF4A):c.*1828G>A rs759101859 0.00004
NM_175914.5(HNF4A):c.*2297C>A rs1341485123 0.00004
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg) rs551560114 0.00003
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_000162.5(GCK):c.-135G>A rs746492953 0.00003
NM_000162.5(GCK):c.-279C>T rs997877536 0.00003
NM_000162.5(GCK):c.-5T>C rs193922251 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000162.5(GCK):c.348C>T (p.Thr116=) rs770145567 0.00003
NM_000181.4(GUSB):c.633C>T (p.Tyr211=) rs140278510 0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000284.4(PDHA1):c.390C>T (p.Ser130=) rs756138817 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000294.3(PHKG2):c.802-17C>T rs772388120 0.00003
NM_000343.4(SLC5A1):c.*771C>T rs550005508 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_000545.8(HNF1A):c.900C>T (p.Pro300=) rs762555237 0.00003
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=) rs192172778 0.00003
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu) rs534858065 0.00003
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) rs755021062 0.00003
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.1094-16C>T rs772976829 0.00003
NM_002294.3(LAMP2):c.300G>A (p.Ala100=) rs765548221 0.00003
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) rs765836082 0.00003
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=) rs782257959 0.00003
NM_005327.7(HADH):c.486A>G (p.Arg162=) rs377521547 0.00003
NM_152419.3(HGSNAT):c.1542+20C>T rs548171657 0.00003
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00003
NM_175914.5(HNF4A):c.*1616G>A rs886056685 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.1017C>T (p.Phe339=) rs142268325 0.00003
NM_175914.5(HNF4A):c.319+10G>A rs375708199 0.00003
NM_175914.5(HNF4A):c.396G>A (p.Ala132=) rs370329321 0.00003
NM_175914.5(HNF4A):c.826+79C>T rs773386088 0.00003
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) rs140146223 0.00003
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) rs776022311 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000162.3(GCK):c.-487C>G rs1329261791 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000202.8(IDS):c.1113G>A (p.Pro371=) rs146615651 0.00002
NM_000202.8(IDS):c.1347G>A (p.Glu449=) rs782690963 0.00002
NM_000202.8(IDS):c.177G>A (p.Val59=) rs782743276 0.00002
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00002
NM_000284.4(PDHA1):c.327C>T (p.Asn109=) rs772943333 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) rs753681797 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000352.6(ABCC8):c.4308-2A>G rs886041391 0.00002
NM_000402.4(G6PD):c.944G>A (p.Arg315His) rs74575103 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000545.8(HNF1A):c.978G>A (p.Ala326=) rs200351196 0.00002
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val) rs201967384 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002103.5(GYS1):c.1020C>T (p.Asp340=) rs13306415 0.00002
NM_002294.3(LAMP2):c.1125C>T (p.Phe375=) rs746288560 0.00002
NM_002294.3(LAMP2):c.557-12C>T rs756269189 0.00002
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) rs750118236 0.00002
NM_002294.3(LAMP2):c.797G>A (p.Arg266His) rs200934351 0.00002
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg) rs556400603 0.00002
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) rs201601894 0.00002
NM_006516.4(SLC2A1):c.*285C>T rs144947295 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=) rs201996220 0.00002
NM_175914.5(HNF4A):c.*867G>A rs940169046 0.00002
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_000035.4(ALDOB):c.-1C>T rs560091436 0.00001
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615 0.00001
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795 0.00001
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518 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.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.129C>T (p.Arg43=) rs760912915 0.00001
NM_000162.5(GCK):c.609G>A (p.Val203=) rs776703291 0.00001
NM_000181.4(GUSB):c.*55C>T rs372605666 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.1181-15C>T rs199965368 0.00001
NM_000202.8(IDS):c.13C>T (p.Arg5Trp) rs141900718 0.00001
NM_000203.5(IDUA):c.1525-7C>A rs184807155 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=) rs749696135 0.00001
NM_000284.4(PDHA1):c.292-11C>T rs776535833 0.00001
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_000284.4(PDHA1):c.899+10T>C rs1471723235 0.00001
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) rs554664722 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000293.3(PHKB):c.3144+9A>C rs200504388 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_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000343.4(SLC5A1):c.373-9C>T rs199690019 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000545.8(HNF1A):c.1309+238G>A rs564888406 0.00001
NM_000545.8(HNF1A):c.1623+20G>A rs1012229716 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_000545.8(HNF1A):c.246G>A (p.Thr82=) rs752243228 0.00001
NM_000545.8(HNF1A):c.537T>C (p.His179=) rs765329757 0.00001
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.894G>A (p.Ala298=) rs951696015 0.00001
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly) rs764236940 0.00001
NM_000891.3(KCNJ2):c.*572G>T rs566129544 0.00001
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000925.4(PDHB):c.43-18T>C rs548113809 0.00001
NM_001040716.2(PC):c.2535C>T (p.Tyr845=) rs534635326 0.00001
NM_001040716.2(PC):c.3234T>C (p.Phe1078=) rs531640812 0.00001
NM_001040716.2(PC):c.634-5C>T rs373145902 0.00001
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile) rs561701030 0.00001
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=) rs752231323 0.00001
NM_002500.5(NEUROD1):c.*6C>A rs576676213 0.00001
NM_002637.4(PHKA1):c.2370-14C>T rs782784720 0.00001
NM_002863.5(PYGL):c.-29A>C rs538311514 0.00001
NM_003597.5(KLF11):c.*192T>C rs552960564 0.00001
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys) rs142784073 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.579A>G (p.Thr193=) rs762771153 0.00001
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447 0.00001
NM_005609.4(PYGM):c.1240-16G>A rs573898801 0.00001
NM_005908.4(MANBA):c.1512G>A (p.Thr504=) rs143694332 0.00001
NM_012203.2(GRHPR):c.636C>T (p.Ile212=) rs548848730 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg) rs1280299073 0.00001
NM_021957.4(GYS2):c.942-7del rs537907545 0.00001
NM_022895.3(C12orf43):c.*1871A>G rs1045819255 0.00001
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg) rs559380161 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.*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.1302C>T (p.Ile434=) rs199884828 0.00001
NM_175914.5(HNF4A):c.369G>A (p.Glu123=) rs772959288 0.00001
NM_175914.5(HNF4A):c.489A>G (p.Ala163=) rs1568731613 0.00001
NM_175914.5(HNF4A):c.49+13G>A rs759324522 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.504G>T (p.Gly168=) rs529490452 0.00001
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+10dup rs761207366
NM_000027.4(AGA):c.395-12del
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-11_623-10del
NM_000027.4(AGA):c.623-21dup rs745896951
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+163G>T rs11681134
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser) rs10123355
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.5(ARSB):c.*2975G>T rs3088247
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1337-15del
NM_000046.5(ARSB):c.312+15del
NM_000046.5(ARSB):c.690+9del rs2112513488
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.1237-15_1237-14del
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.40-5del
NM_000108.5(DLD):c.439-7del
NM_000108.5(DLD):c.685-14del rs759170630
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.389+18del
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000151.4(G6PC1):c.*1227dup rs397735497
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1] rs397717945
NM_000152.5(GAA):c.1194+11del rs2143856264
NM_000152.5(GAA):c.1326+12del
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1551+15del
NM_000152.5(GAA):c.1637-12dup
NM_000152.5(GAA):c.2041-14del
NM_000152.5(GAA):c.2041-14dup
NM_000152.5(GAA):c.2331+48C>A rs2143921034
NM_000152.5(GAA):c.2647-71G>C rs4889821
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000154.2(GALK1):c.165+8dup
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.[652C>T;c.940A>G]
NM_000155.4(GALT):c.253-11C>T
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.820+2T>C
NM_000158.4(GBE1):c.*494A>T rs145934828
NM_000158.4(GBE1):c.*523T>A rs113749146
NM_000158.4(GBE1):c.-35dup rs11391701
NM_000158.4(GBE1):c.1000= (p.Ile334=)
NM_000158.4(GBE1):c.1010T>A (p.Phe337Tyr)
NM_000158.4(GBE1):c.1109-6del rs747483974
NM_000158.4(GBE1):c.2053-3372del rs34052684
NM_000158.4(GBE1):c.2053-3382dup rs34052684
NM_000158.4(GBE1):c.555+14del rs573234623
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.-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.-449G>T rs1375544246
NM_000162.5(GCK):c.-456G>A rs757266656
NM_000162.5(GCK):c.1019+16G>T rs193922256
NM_000162.5(GCK):c.1019+275del rs5883890
NM_000162.5(GCK):c.108G>A (p.Arg36=) rs754169218
NM_000162.5(GCK):c.1233C>G (p.Ser411=) rs755112715
NM_000162.5(GCK):c.137G>A (p.Arg46Lys) rs1064796993
NM_000162.5(GCK):c.183C>T (p.Tyr61=) rs780612692
NM_000162.5(GCK):c.208+9T>A rs193922288
NM_000162.5(GCK):c.333C>G (p.Pro111=) rs61736250
NM_000162.5(GCK):c.45+11C>G rs193922298
NM_000162.5(GCK):c.46-4438C>T rs41282712
NM_000162.5(GCK):c.46-4621C>T rs1562722328
NM_000162.5(GCK):c.483+10G>A rs1554335560
NM_000162.5(GCK):c.540T>C (p.Asn180=) rs1554335444
NM_000162.5(GCK):c.579+8G>A rs1562717232
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.680-15C>T rs369345791
NM_000162.5(GCK):c.792C>T (p.Gly264=) rs754094813
NM_000175.5(GPI):c.1356G>C (p.Ala452=) rs34604585
NM_000175.5(GPI):c.751-5dup rs375313737
NM_000181.4(GUSB):c.1476+13del rs2115900599
NM_000181.4(GUSB):c.1476+13dup
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.397-20dup rs765594686
NM_000181.4(GUSB):c.724+23TC[3] rs3830444
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000202.8(IDS):c.1007-7G>C rs2124006476
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.1181-14G>A
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
NM_000202.8(IDS):c.418+14T>C
NM_000202.8(IDS):c.418+17A>G
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.636G>A (p.Met212Ile)
NM_000202.8(IDS):c.709-661del rs1196180401
NM_000202.8(IDS):c.781C>A (p.Pro261Thr) rs141720810
NM_000202.8(IDS):c.880-11del
NM_000202.8(IDS):c.880-11dup
NM_000202.8(IDS):c.880-4G>A
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-11_1190-10dup rs150523349
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1727+21del
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.589+20dup
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.590-8del
NM_000203.5(IDUA):c.590-8dup
NM_000203.5(IDUA):c.973-45G>C rs6831021
NM_000203.5(IDUA):c.99T>A (p.His33Gln)
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000262.3(NAGA):c.*1788_*1789del rs10713176
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.597+18dup rs553359794
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile) rs578127376
NM_000263.4(NAGLU):c.1021+15T>C rs149434978
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.383+10del
NM_000263.4(NAGLU):c.764+20del
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.*3_*13del (p.Ter391=) rs764728647
NM_000284.4(PDHA1):c.*525C>G rs778207227
NM_000284.4(PDHA1):c.1009-17_1009-14dup rs1569193999
NM_000284.4(PDHA1):c.1009-31_1009-15del
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
NM_000284.4(PDHA1):c.117+17T>G
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.58-18A>C
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
NM_000284.4(PDHA1):c.759+21dup
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.759+34_759+45del rs11278403
NM_000284.4(PDHA1):c.760-14_760-13del
NM_000284.4(PDHA1):c.760-14dup
NM_000284.4(PDHA1):c.832-14C>T
NM_000284.4(PDHA1):c.900-18_900-14dup
NM_000284.4(PDHA1):c.900-8C>G
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000289.6(PFKM):c.1063-5del
NM_000289.6(PFKM):c.1063-5dup
NM_000289.6(PFKM):c.1341+8del rs2135995386
NM_000289.6(PFKM):c.1413-19G>A
NM_000289.6(PFKM):c.1413-58C>A rs78496902
NM_000289.6(PFKM):c.1881-17del
NM_000289.6(PFKM):c.1992+14C>A
NM_000289.6(PFKM):c.2092+10del
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_000289.6(PFKM):c.85+22dup
NM_000292.3(PHKA2):c.1715-14C>T
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
NM_000292.3(PHKA2):c.2806+16C>T
NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)
NM_000293.3(PHKB):c.*1753G>A rs7202866
NM_000293.3(PHKB):c.1204+16del
NM_000293.3(PHKB):c.2197-17G>A
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2766-14G>T rs375250621
NM_000293.3(PHKB):c.2858C>T (p.Pro953Leu)
NM_000293.3(PHKB):c.2896-4dup
NM_000293.3(PHKB):c.3144+33_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34del rs5816579
NM_000293.3(PHKB):c.77-8dup
NM_000293.3(PHKB):c.775-18T>C
NM_000294.3(PHKG2):c.647+20del
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.693-11_693-9del rs560285370
NM_000308.4(CTSA):c.846T>C (p.Ala282=)
NM_000308.4(CTSA):c.870-15del rs3215446
NM_000308.4(CTSA):c.948+13G>T rs199925152
NM_000340.2(SLC2A2):c.*725G>C rs79770697
NM_000340.2(SLC2A2):c.1171-7del
NM_000343.4(SLC5A1):c.*1940G>A rs117112619
NM_000343.4(SLC5A1):c.1130-10_1130-8del rs770678836
NM_000343.4(SLC5A1):c.1771+3G>A
NM_000343.4(SLC5A1):c.1772-6G>A rs201685531
NM_000343.4(SLC5A1):c.885+20G>A
NM_000352.6(ABCC8):c.3558-7G>T rs900191703
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4307+13A>G rs886048047
NM_000404.4(GLB1):c.1143+14del rs376544604
NM_000404.4(GLB1):c.1143+14dup rs376544604
NM_000404.4(GLB1):c.1209C>G (p.Pro403=) rs528690108
NM_000404.4(GLB1):c.1348-5dup
NM_000404.4(GLB1):c.458-13del
NM_000404.4(GLB1):c.734-99G>T rs72856120
NM_000404.4(GLB1):c.76-16del
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.792+18G>A rs202068250
NM_000404.4(GLB1):c.793-14dup rs943395100
NM_000434.4(NEU1):c.*210T>A rs13118
NM_000458.4(HNF1B):c.*938A>G rs574000398
NM_000458.4(HNF1B):c.-31C>G rs771697321
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1045+330G>T rs9906451
NM_000458.4(HNF1B):c.1207-247_1207-246insGG rs10701156
NM_000458.4(HNF1B):c.1207-7C>T rs1215174368
NM_000458.4(HNF1B):c.135G>A (p.Thr45=) rs2034121058
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) rs773569563
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.477T>C (p.Pro159=) rs1212716750
NM_000458.4(HNF1B):c.545-73TCTG[3] rs3216929
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000485.3(APRT):c.*178A>G rs4695
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.705+18G>A
NM_000507.4(FBP1):c.826-15G>A rs148942437
NM_000507.4(FBP1):c.826-22G>A rs28369775
NM_000512.5(GALNS):c.1139+20del
NM_000512.5(GALNS):c.120+13G>A
NM_000512.5(GALNS):c.121-17C>T
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000512.5(GALNS):c.244+14del
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.633+9del
NM_000512.5(GALNS):c.759-16del
NM_000525.4(KCNJ11):c.*62G>A rs5213
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000528.4(MAN2B1):c.1027-6del rs1384911711
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.1528-11del rs2145253449
NM_000528.4(MAN2B1):c.1645-195C>A
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.2267+8del
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.2355+20C>T
NM_000528.4(MAN2B1):c.262+17del
NM_000528.4(MAN2B1):c.2665-165G>C rs2145222928
NM_000528.4(MAN2B1):c.2665-17del
NM_000528.4(MAN2B1):c.2923+19dup
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1309+184dup rs201039488
NM_000545.8(HNF1A):c.1309+86TCAT[6] rs58371019
NM_000545.8(HNF1A):c.1309+86TCAT[8] rs58371019
NM_000545.8(HNF1A):c.1494C>T (p.Ser498=) rs138145827
NM_000545.8(HNF1A):c.1623+16G>A rs1555212572
NM_000545.8(HNF1A):c.1768+11C>T rs886049034
NM_000545.8(HNF1A):c.1768+65del rs193922590
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.327-14T>C rs886049033
NM_000545.8(HNF1A):c.60G>T (p.Gly20=) rs1449504165
NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu) rs267603343
NM_000545.8(HNF1A):c.870C>T (p.Pro290=) rs779008957
NM_000642.3(AGL):c.1082+19dup
NM_000642.3(AGL):c.1283+13del rs2101128921
NM_000642.3(AGL):c.1283+22dup rs775216906
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1424-9dup
NM_000642.3(AGL):c.1611+11del rs2101137047
NM_000642.3(AGL):c.294-8dup
NM_000642.3(AGL):c.2950-9del rs2100789612
NM_000642.3(AGL):c.3084-8del
NM_000642.3(AGL):c.3260-6del rs772280861
NM_000642.3(AGL):c.3260-6dup rs772280861
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4348-3dup rs886044921
NM_000642.3(AGL):c.460+24del
NM_000642.3(AGL):c.665-8dup
NM_000642.3(AGL):c.83-7dup
NM_000891.3(KCNJ2):c.*1678dup rs145779709
NM_000891.3(KCNJ2):c.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.700+9del
NM_001039770.3(TMPPE):c.-512C>G rs115554377
NM_001040716.2(PC):c.*106G>T rs45505701
NM_001040716.2(PC):c.1023-14C>G rs111858832
NM_001040716.2(PC):c.1368+19del
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2224-3del rs1292656088
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2899-3del rs752139338
NM_001040716.2(PC):c.322-9dup rs2135941001
NM_001040716.2(PC):c.3288+14del
NM_001040716.2(PC):c.904-5dup rs2135929887
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.5198-20dup rs566002300
NM_001041.4(SI):c.567G>A (p.Leu189=) rs76463353
NM_001041.4(SI):c.636-22_636-19del rs558953371
NM_001064.4(TKT):c.1265-47G>C rs3736155
NM_001064.4(TKT):c.1697-49C>T rs3816767
NM_001136035.4(TRMT1):c.1106+26G>C rs35601737
NM_001160372.4(TRAPPC9):c.731-31_731-11del rs11267571
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164277.2(SLC37A4):c.1125-7dup
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.2(SLC37A4):c.527= (p.Cys176=) rs56966114
NM_001164277.2(SLC37A4):c.626+10del
NM_001164277.2(SLC37A4):c.626+16G>A rs74673344
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1621-13_1621-10del rs377641674
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.2237-7dup
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2451-4del
NM_001352514.2(HLCS):c.494-25TC[4] rs146532042
NM_001354768.3(NRL):c.-28+11215dup rs61497654
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001360016.2(G6PD):c.*304T>C
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)
NM_001360016.2(G6PD):c.120+199dup rs781893284
NM_001360016.2(G6PD):c.120+2955A>G
NM_001360016.2(G6PD):c.120+3126T>C
NM_001360016.2(G6PD):c.121-1792T>C
NM_001360016.2(G6PD):c.121-1813del
NM_001360016.2(G6PD):c.121-2107T>C
NM_001360016.2(G6PD):c.121-2679C>G
NM_001360016.2(G6PD):c.121-4460del
NM_001360016.2(G6PD):c.1288-14TC[2] rs199586268
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=) rs2230037
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
NM_001360016.2(G6PD):c.486-34del rs3216174
NM_001360016.2(G6PD):c.645-8_645-5del rs782160396
NM_001360016.2(G6PD):c.[1116G>A;1311=]
NM_001365304.2(LOC112694756):c.*1308+17T>C rs566755208
NM_001365304.2(LOC112694756):c.*833+17C>G rs78209292
NM_001366110.1(PAX4):c.*469TATG[3] rs66998513
NM_001366110.1(PAX4):c.*477_*478insATGT rs200757052
NM_001366110.1(PAX4):c.13+175G>C rs327516
NM_001370658.1(BTD):c.-17+13C>G
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro) rs397514333
NM_001370658.1(BTD):c.400-8dup rs397514361
NM_001543.5(NDST1):c.1846+23G>C rs2304063
NM_001543.5(NDST1):c.750A>G (p.Pro250=) rs2273234
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_001715.3(BLK):c.391C>A (p.Arg131=) rs73663163
NM_001715.3(BLK):c.39G>A (p.Lys13=) rs142129056
NM_001715.3(BLK):c.772+17G>A
NM_001739.2(CA5A):c.460-14C>A
NM_001807.6(CEL):c.1659C>G (p.Thr553=) rs78256304
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.1399-13_1399-11del rs587691611
NM_001931.5(DLAT):c.1515-13dup
NM_001931.5(DLAT):c.1678-8del rs781833307
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
NM_001931.5(DLAT):c.279+18dup
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.526-6del rs2136248435
NM_002076.4(GNS):c.625-10dup rs2136247672
NM_002076.4(GNS):c.793-15del rs754323701
NM_002076.4(GNS):c.793-15dup
NM_002103.5(GYS1):c.1423-10del
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.1749C>T (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.941+10dup
NM_002294.3(LAMP2):c.*1243A>G rs147825361
NM_002294.3(LAMP2):c.*33A>G rs745798436
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.877C>A (p.Arg293=) rs727503118
NM_002294.3(LAMP2):c.929-9del rs1338648665
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.655G>A (p.Val219Ile) rs3754689
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045
NM_002637.4(PHKA1):c.*1375A>G rs142925152
NM_002637.4(PHKA1):c.1042-20T>G
NM_002637.4(PHKA1):c.1401G>A (p.Glu467=) rs782491320
NM_002637.4(PHKA1):c.2365A>G (p.Met789Val)
NM_002637.4(PHKA1):c.2391A>G (p.Glu797=)
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=) rs782602098
NM_002637.4(PHKA1):c.3244-12del
NM_002637.4(PHKA1):c.3244-12dup
NM_002637.4(PHKA1):c.381T>C (p.Asp127=)
NM_002637.4(PHKA1):c.459C>G (p.Leu153=)
NM_002637.4(PHKA1):c.79-5dup
NM_002863.5(PYGL):c.*11del rs3216001
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1] rs561479231
NM_002863.5(PYGL):c.1093-16C>A
NM_002863.5(PYGL):c.1828-2del rs11356035
NM_002863.5(PYGL):c.2178-11del rs1555326336
NM_002863.5(PYGL):c.2312+12T>C
NM_002863.5(PYGL):c.2380-12T>C
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003597.5(KLF11):c.*1423T>C rs571234569
NM_003597.5(KLF11):c.*226_*227dup rs34206941
NM_003597.5(KLF11):c.-95GCC[5] rs372827624
NM_003754.3(EIF3F):c.*24C>T rs15879
NM_004130.4(GYG1):c.452A>T (p.His151Leu) rs35054019
NM_005271.5(GLUD1):c.1198-9C>G rs201421730
NM_005271.5(GLUD1):c.1198-9C>T
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1647G>A (p.Val549=) rs756484571
NM_005271.5(GLUD1):c.582+18A>G
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005327.4(HADH):c.-56C>A rs770197760
NM_005327.7(HADH):c.261+16C>T rs71601073
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005609.4(PYGM):c.1000-15del
NM_005609.4(PYGM):c.1093-10del
NM_005609.4(PYGM):c.1093-13dup rs1304298343
NM_005609.4(PYGM):c.1191G>A (p.Leu397=)
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.1621-19del rs571976523
NM_005609.4(PYGM):c.1970-17dup
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.661-5del rs768761419
NM_005609.4(PYGM):c.855+13del
NM_005645.4(TAF13):c.-2G>A
NM_005883.3(APC2):c.4384A>C (p.Arg1462=) rs265273
NM_005908.4(MANBA):c.1318-13del
NM_005908.4(MANBA):c.1485+16del rs2110216761
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1704+10C>T
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-11_2416-10del rs5860729
NM_005908.4(MANBA):c.2416-20dup rs5860729
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser) rs182869272
NM_005908.4(MANBA):c.273-3del
NM_005908.4(MANBA):c.273-3dup
NM_006516.4(SLC2A1):c.*462G>C rs4658
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT rs2124446051
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) rs202060209
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_006618.5(KDM5B):c.2198+25dup rs3216061
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=) rs1141109
NM_006721.4(ADK):c.727-8del rs112610475
NM_006765.4(TUSC3):c.309-15C>G
NM_006765.4(TUSC3):c.87C>T (p.Leu29=) rs78626330
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283
NM_012434.5(SLC17A5):c.*764G>A rs139964473
NM_012434.5(SLC17A5):c.1351-15del rs1341837566
NM_012434.5(SLC17A5):c.1351-15dup
NM_012434.5(SLC17A5):c.291+16dup
NM_012434.5(SLC17A5):c.525+36G>C rs12192476
NM_012434.5(SLC17A5):c.94+13del
NM_012434.5(SLC17A5):c.95-19del
NM_012434.5(SLC17A5):c.978+11dup rs2150099214
NM_014026.6(DCPS):c.219GGATGG[3] (p.Gly77_Glu78insAspGly)
NM_015957.4(APIP):c.-53C>T rs2956113
NM_015957.4(APIP):c.57+78A>G rs2016814
NM_015981.4(CAMK2A):c.1467-87A>T rs17712679
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
NM_016203.4(PRKAG2):c.1006-9del rs775574266
NM_016203.4(PRKAG2):c.1006-9dup rs775574266
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
NM_016203.4(PRKAG2):c.754+13dup rs747490039
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000
NM_016219.5(MAN1B1):c.1255-13del
NM_016219.5(MAN1B1):c.1567-18G>A
NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)
NM_016219.5(MAN1B1):c.620+10G>A
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del) rs71929261
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
NM_021957.4(GYS2):c.*290G>T rs17849015
NM_021957.4(GYS2):c.1230-14dup rs752714629
NM_021957.4(GYS2):c.1890+25del rs36023861
NM_021957.4(GYS2):c.496-11dup
NM_021957.4(GYS2):c.574C>A (p.Arg192=)
NM_022895.3(C12orf43):c.*1890C>T rs886049035
NM_022895.3(C12orf43):c.*2372G>A rs55962050
NM_022895.3(C12orf43):c.*2626G>A rs1877483762
NM_022895.3(C12orf43):c.*2694A>C rs571084139
NM_022895.3(C12orf43):c.*2765C>T rs1877471070
NM_022895.3(C12orf43):c.*2768G>A rs972789249
NM_022895.3(C12orf43):c.*2922C>A rs758414199
NM_024824.5(ZC3H14):c.1354+15A>G rs2297124
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_024989.4(PGAP1):c.1273-8del rs3835877
NM_024989.4(PGAP1):c.1553-15dup
NM_024989.4(PGAP1):c.2338-19C>T
NM_024989.4(PGAP1):c.807+13del
NM_024989.4(PGAP1):c.861-14_861-11del rs751306632
NM_024989.4(PGAP1):c.927+12dup rs1162737906
NM_031229.4(RBCK1):c.1209+24del
NM_031229.4(RBCK1):c.282C>T (p.Phe94=) rs753580979
NM_031229.4(RBCK1):c.583-17G>C
NM_031229.4(RBCK1):c.917+11dup
NM_031466.8(TRAPPC9):c.-129_-109dup rs367682297
NM_053013.4(ENO3):c.667+24dup rs754023017
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.86-3del rs151153333
NM_138413.4(HOGA1):c.*560T>C rs1977641
NM_138413.4(HOGA1):c.*637G>A rs1977640
NM_138775.3(ALKBH8):c.772-72_772-71del rs5794554
NM_144563.3(RPIA):c.633G>A (p.Lys211=) rs72930711
NM_152419.3(HGSNAT):c.*1086G>C rs145370743
NM_152419.3(HGSNAT):c.*1942A>G rs112626858
NM_152419.3(HGSNAT):c.*2755C>T rs76686222
NM_152419.3(HGSNAT):c.*600C>T rs377372501
NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
NM_152419.3(HGSNAT):c.1129-7dup
NM_152419.3(HGSNAT):c.1250+19dup
NM_152419.3(HGSNAT):c.1251-12del
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.564-4dup rs748560542
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_175914.5(HNF4A):c.*1106G>A rs753675648
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.*2256C>G rs537829031
NM_175914.5(HNF4A):c.*2600T>C rs886056689
NM_175914.5(HNF4A):c.*2761G>T rs1212257046
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.*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.224+288G>C rs3212184
NM_175914.5(HNF4A):c.426+7G>C rs1600723028
NM_175914.5(HNF4A):c.50-4791_50-4788del rs886056679
NM_175914.5(HNF4A):c.670+18C>A rs751211080
NM_175914.5(HNF4A):c.826+169A>G rs3212201
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789

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