ClinVar Miner

List of variants reported as benign for inborn disorder of amino acid and other organic acid metabolism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1473
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HGVS dbSNP gnomAD frequency
NM_001033044.4(GLUL):c.*2118T>C rs10458354 0.99979
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_005589.4(ALDH6A1):c.*142C>T rs8017248 0.98056
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_000161.3(GCH1):c.-121T>C rs1753589 0.96017
NM_183050.4(BCKDHB):c.*395G>T rs4706116 0.95752
NM_002300.8(LDHB):c.713+15A>G rs1650289 0.94113
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_020686.6(ABAT):c.*1933T>C rs4985036 0.92763
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_000191.3(HMGCL):c.*486G>A rs11714 0.91585
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_002203.4(ITGA2):c.*721A>C rs1109527 0.88662
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
NM_153006.3(NAGS):c.*211C>T rs640631 0.86592
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_002108.4(HAL):c.1315G>A (p.Val439Ile) rs7297245 0.85575
NM_001033044.4(GLUL):c.-43G>C rs912901 0.84379
NM_002065.6(GLUL):c.-486T>C rs912902 0.83866
NM_002108.4(HAL):c.1353+13A>G rs6538694 0.82983
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_000274.3(OAT):c.-94T>G rs4144117 0.82728
NM_003597.5(KLF11):c.*1558T>C rs4669522 0.82295
NM_001715.3(BLK):c.-46A>G rs2250788 0.82234
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_003477.3(PDHX):c.*644C>A rs7808 0.80809
NM_000458.4(HNF1B):c.*100= rs1555818000 0.80645
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_001701.4(BAAT):c.*948C>A rs7043029 0.80525
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_001701.4(BAAT):c.*46G>A rs2229594 0.78680
NM_003477.2(PDHX):c.-302A>G rs2956112 0.78475
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_183050.4(BCKDHB):c.*627T>C rs4706838 0.78227
NM_183050.4(BCKDHB):c.*2271G>A rs15062 0.78187
NM_183050.4(BCKDHB):c.*994G>A rs4502885 0.78179
NM_183050.4(BCKDHB):c.*1875G>A rs7759304 0.78177
NM_183050.4(BCKDHB):c.*2282C>T rs10864 0.78176
NM_183050.4(BCKDHB):c.*1892T>C rs7740958 0.78169
NM_183050.4(BCKDHB):c.*1778A>G rs7758761 0.78168
NM_183050.4(BCKDHB):c.*304G>A rs926731 0.78168
NM_183050.4(BCKDHB):c.*1241A>G rs1042368 0.78159
NM_183050.4(BCKDHB):c.*293T>C rs926732 0.78149
NM_183050.4(BCKDHB):c.*1810T>C rs7740932 0.78143
NM_183050.4(BCKDHB):c.*789C>T rs4706118 0.78112
NM_183050.4(BCKDHB):c.*805T>C rs4706839 0.78101
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_183050.4(BCKDHB):c.*1444T>C rs3805848 0.77735
NM_000429.3(MAT1A):c.426T>C (p.Ala142=) rs1143694 0.76766
NM_183050.4(BCKDHB):c.*1142C>G rs1042367 0.75871
NM_000187.4(HGD):c.240A>T (p.Gln80His) rs2255543 0.75354
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_002203.4(ITGA2):c.*3026A>G rs7719848 0.75000
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_001366110.1(PAX4):c.*521C>T rs712699 0.74699
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74681
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_001366110.1(PAX4):c.*211A>G rs712700 0.74585
NM_002203.4(ITGA2):c.*894C>T rs1109526 0.74563
NM_003060.4(SLC22A5):c.*843T>C rs274548 0.74357
NM_003060.4(SLC22A5):c.*1340A>T rs274547 0.74351
NM_000429.3(MAT1A):c.870A>G (p.Val290=) rs10788546 0.73313
NM_000429.3(MAT1A):c.882T>C (p.Ala294=) rs10887711 0.73311
NM_003060.4(SLC22A5):c.*959_*960insC rs144261584 0.73243
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705 0.71986
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000275.3(OCA2):c.1183-4A>G rs10852218 0.71746
NM_000687.3(AHCY):c.-124C>A rs819146 0.71726
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708 0.71129
NM_004577.4(PSPH):c.*361A>G rs4947534 0.70873
NM_000170.3(GLDC):c.*540C>T rs7848919 0.70462
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_002500.5(NEUROD1):c.-73G>A rs2583016 0.68252
NM_000170.3(GLDC):c.*473C>T rs1061407 0.67774
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_183050.4(BCKDHB):c.*345C>T rs1811844 0.66759
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
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_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_000016.6(ACADM):c.*878T>C rs1146587 0.65645
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_003748.4(ALDH4A1):c.*763T>C rs1138267 0.65227
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_000320.3(QDPR):c.*510C>T rs1031327 0.64808
NM_000320.3(QDPR):c.*468A>C rs699460 0.64794
NM_003477.3(PDHX):c.*486G>T rs9326 0.64744
NM_000320.3(QDPR):c.*220T>C rs1049581 0.64638
NM_000320.3(QDPR):c.*221G>A rs1049582 0.64635
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_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938 0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706 0.63390
NM_001701.4(BAAT):c.59G>A (p.Arg20Gln) rs1572983 0.63259
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_020686.6(ABAT):c.*2114G>A rs11648372 0.62549
NM_001033044.4(GLUL):c.*2307C>T rs2296521 0.62516
NM_020686.6(ABAT):c.*990G>C rs4985000 0.62271
NM_020686.6(ABAT):c.*2567C>G rs12597124 0.62254
NM_002108.4(HAL):c.485-5T>C rs2302629 0.61949
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_000320.3(QDPR):c.*690A>G rs1031326 0.61178
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_001033044.4(GLUL):c.*342T>A rs9347 0.59226
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_003477.2(PDHX):c.-88C>A rs2956110 0.59089
NM_000275.3(OCA2):c.1065G>A (p.Ala355=) rs1800404 0.59023
NM_001033044.4(GLUL):c.*2644G>C rs2296523 0.58857
NM_001033044.4(GLUL):c.195T>C (p.Ser65=) rs1058111 0.58837
NM_001033044.4(GLUL):c.*919A>G rs7734 0.58827
NM_000458.4(HNF1B):c.*444= rs2688 0.58526
NM_003060.4(SLC22A5):c.-207C>G rs2631367 0.58257
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_014252.3(SLC25A15):c.-274T>C rs7997189 0.56484
NM_001482.3(GATM):c.*940C>T rs1049518 0.55910
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_003597.5(KLF11):c.*1853T>C rs7632 0.55083
NM_000429.3(MAT1A):c.1131C>T (p.Tyr377=) rs2993763 0.54479
NM_000429.3(MAT1A):c.1085+14C>T rs2994388 0.54474
NM_000275.3(OCA2):c.1551C>T (p.Cys517=) rs1800411 0.54427
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_020686.6(ABAT):c.*1131G>A rs7205816 0.54125
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) rs1731017 0.53047
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000275.3(OCA2):c.1365-15C>T rs12910433 0.51222
NM_000550.3(TYRP1):c.*908T>C rs1063380 0.50921
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
NM_000018.3(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_001358530.2(MOCS1):c.124-216A>G rs3008822 0.50249
NM_000550.3(TYRP1):c.*853A>C rs910 0.49606
NM_020686.6(ABAT):c.169-5T>C rs1641010 0.49394
NM_001715.3(BLK):c.330T>C (p.Ser110=) rs3816668 0.49161
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_000195.5(HPS1):c.*706C>G rs3830020 0.48408
NM_005566.4(LDHA):c.*720C>G rs3758683 0.48049
NM_000550.3(TYRP1):c.*123C>A rs683 0.48015
NM_005566.4(LDHA):c.*622A>G rs3758681 0.47986
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000275.3(OCA2):c.2328T>C (p.Ala776=) rs1800419 0.47440
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707 0.47295
NM_000550.3(TYRP1):c.*404A>T rs2762464 0.46929
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_001482.3(GATM):c.*715T>C rs1049508 0.46090
NM_053013.4(ENO3):c.-3+3C>T rs366577 0.45968
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_000195.5(HPS1):c.*955A>G rs1737 0.45932
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_002108.4(HAL):c.*1241A>C rs1059844 0.44211
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000525.4(KCNJ11):c.*441T>C rs2285676 0.43747
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43400
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_001715.3(BLK):c.*176C>T rs1042689 0.42891
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_000545.8(HNF1A):c.51C>G (p.Leu17=) rs1169289 0.42543
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_001080.3(ALDH5A1):c.*253C>A rs1054899 0.42316
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_020686.6(ABAT):c.*915C>G rs3743801 0.41460
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056 0.40694
NM_005589.4(ALDH6A1):c.730+13A>C rs2072293 0.39899
NM_183050.4(BCKDHB):c.*731C>T rs4706117 0.39858
NM_020686.6(ABAT):c.*512G>A rs3743798 0.39781
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000071.3(CBS):c.*565C>T rs706209 0.39516
NM_000071.3(CBS):c.*544T>C rs706208 0.39461
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_014252.4(SLC25A15):c.*515A>G rs7322603 0.39342
NM_014252.4(SLC25A15):c.*353A>G rs9549293 0.39328
NM_000195.5(HPS1):c.*452G>A rs701801 0.39309
NM_014252.4(SLC25A15):c.*579C>T rs7321976 0.39308
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_003748.4(ALDH4A1):c.*118G>A rs11740 0.38688
NM_003748.4(ALDH4A1):c.*702C>T rs3202002 0.38569
NM_000458.4(HNF1B):c.*274= rs2689 0.38166
NM_020686.6(ABAT):c.*476T>C rs1731071 0.37627
NM_020686.6(ABAT):c.*574A>G rs1641032 0.37580
NM_020686.6(ABAT):c.*571A>C rs1641031 0.37567
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_003477.2(PDHX):c.-272G>A rs2956111 0.36407
NM_001875.5(CPS1):c.*438T>G rs7684 0.36145
NM_002203.4(ITGA2):c.*3986A>C rs7725246 0.35845
NM_181507.2(HPS5):c.*464C>A rs1046611 0.35745
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
NM_000195.5(HPS1):c.*1167G>A rs1061437 0.35147
NM_000298.6(PKLR):c.*1040G>A 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_002203.4(ITGA2):c.*2940G>A rs6898333 0.34995
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu) rs17849654 0.34875
NM_001715.3(BLK):c.*428G>A rs1042701 0.34826
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.*1215C>T rs3830024 0.34580
NM_003477.2(PDHX):c.-390G>A rs2956114 0.34353
NM_000429.3(MAT1A):c.*1297T>C rs1985908 0.34331
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_181507.2(HPS5):c.*475C>T rs1046615 0.33956
NM_000162.5(GCK):c.*759del rs55714218 0.33944
NM_183235.3(RAB27A):c.*1926T>A rs8028801 0.33811
NM_181507.2(HPS5):c.*299C>T rs12419588 0.33793
NM_181507.2(HPS5):c.*300T>C rs12416821 0.33782
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_000411.7(HLCS):c.-480-12A>G rs115866403 0.33322
NM_183235.3(RAB27A):c.*852C>T rs3179664 0.33294
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_020686.6(ABAT):c.984C>A (p.Val328=) rs1641022 0.32625
NM_000277.3(PAH):c.*187G>A rs1801153 0.32335
NM_020686.6(ABAT):c.*258G>C rs737695 0.31975
NM_001171993.2(HPD):c.-115+47G>A rs3741591 0.31802
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_001715.3(BLK):c.-190C>T rs922483 0.31162
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_001482.2(GATM):c.-200C>T rs7164139 0.31090
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_001482.3(GATM):c.*600A>G rs1049503 0.31074
NM_002203.4(ITGA2):c.*2999A>G rs6880055 0.31005
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_000545.8(HNF1A):c.*438G>A rs1169310 0.30485
NM_000545.8(HNF1A):c.1501+7G>A rs2464195 0.30441
NM_000545.8(HNF1A):c.*197G>T rs1169309 0.30438
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_000289.5(PFKM):c.-112T>G rs12306290 0.29895
NM_001366110.1(PAX4):c.*477C>T rs327520 0.29767
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_000017.4(ACADS):c.*527A>G rs9204 0.29435
NM_001080.3(ALDH5A1):c.*1840G>A rs2744602 0.29135
NM_000481.4(AMT):c.*696C>T rs10640 0.29031
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_001875.5(CPS1):c.*346T>C rs715 0.27930
NM_183235.3(RAB27A):c.*1931T>C rs6493770 0.27860
NM_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_183235.2(RAB27A):c.*2554C>T rs28564077 0.27672
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_183235.3(RAB27A):c.*14C>T rs1050931 0.27464
NM_183235.3(RAB27A):c.*1662A>T rs1061823 0.27450
NM_183235.3(RAB27A):c.*936C>A rs1061870 0.27449
NM_183235.3(RAB27A):c.*949A>G rs1061873 0.27447
NM_183235.3(RAB27A):c.*1594A>G rs1061821 0.27431
NM_183235.3(RAB27A):c.*1647T>G rs1061822 0.27431
NM_183235.3(RAB27A):c.*1742A>G rs1061824 0.27430
NM_183235.3(RAB27A):c.*1427G>A rs1061875 0.27307
NM_183235.3(RAB27A):c.*1418T>A rs1061874 0.27298
NM_001902.6(CTH):c.*523A>T rs583316 0.27281
NM_183235.3(RAB27A):c.*2007G>A rs6493769 0.27179
NM_000458.4(HNF1B):c.*99C>A rs2229295 0.27047
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_020686.6(ABAT):c.*1405C>T rs7201586 0.26539
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
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_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_000411.7(HLCS):c.-466A>G rs117138955 0.25759
NM_000411.7(HLCS):c.-471A>G rs118091633 0.25745
NM_003748.4(ALDH4A1):c.*712C>T rs14311 0.25638
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_001080.3(ALDH5A1):c.726+8G>A rs2817220 0.25132
NM_000545.8(HNF1A):c.864G>C (p.Gly288=) rs56348580 0.25042
NM_175914.5(HNF4A):c.*1132C>T rs6130615 0.24797
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541 0.24677
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333 0.24672
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001875.5(CPS1):c.*692C>G rs12476133 0.24256
NM_003748.4(ALDH4A1):c.*921G>A rs1138269 0.24248
NM_003748.4(ALDH4A1):c.*925C>T rs1140477 0.24236
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328 0.24081
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_005589.4(ALDH6A1):c.*1934T>C rs10200 0.23558
NM_005589.4(ALDH6A1):c.*1157G>C rs4646866 0.23461
NM_005589.4(ALDH6A1):c.*1148C>T rs4646865 0.23441
NM_004577.4(PSPH):c.159C>T (p.Gly53=) rs74874687 0.23305
NM_004577.4(PSPH):c.145C>T (p.Arg49Trp) rs79451216 0.23299
NM_000137.4(FAH):c.-105G>C rs112474268 0.23230
NM_000284.4(PDHA1):c.*1394C>T rs55856360 0.22991
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
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_000429.3(MAT1A):c.92-9C>G rs10887721 0.22736
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_001902.6(CTH):c.*592C>T rs6677781 0.22168
NM_000458.4(HNF1B):c.*924C>G rs10962 0.22156
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_003477.2(PDHX):c.-129C>T rs112032820 0.22090
NM_000071.3(CBS):c.*123C>G rs1051319 0.21968
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_002108.4(HAL):c.*110C>A rs2230885 0.21171
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_000284.4(PDHA1):c.*1377G>A rs56039350 0.20892
NM_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_000429.3(MAT1A):c.*1206G>A rs1832683 0.20619
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_014252.4(SLC25A15):c.*1855C>A rs9566580 0.20154
NM_000429.3(MAT1A):c.*67C>T rs7087728 0.20071
NM_004531.5(MOCS2):c.*2158C>T rs17298242 0.20066
NM_000275.3(OCA2):c.2364G>A (p.Ser788=) rs12592307 0.19938
NM_024747.6(HPS6):c.*178T>G rs3816 0.19913
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_003477.2(PDHX):c.-202A>G rs113073242 0.19613
NM_003477.2(PDHX):c.-505G>A 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_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_003748.4(ALDH4A1):c.*444T>C rs9117 0.18721
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
NM_003477.2(PDHX):c.-124G>C rs375130125 0.18392
NM_000458.4(HNF1B):c.*384A>G rs1058166 0.17933
NM_005589.4(ALDH6A1):c.*155T>C rs8204 0.17644
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_181507.2(HPS5):c.*804C>T rs1046628 0.17195
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000353.3(TAT):c.43C>T (p.Pro15Ser) rs74344827 0.16727
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_005589.4(ALDH6A1):c.112-11G>T rs2302126 0.15764
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_001701.4(BAAT):c.*1458G>A rs59311341 0.15501
NM_001701.4(BAAT):c.*589C>T rs41274983 0.15466
NM_001701.4(BAAT):c.*611G>A rs41274981 0.15464
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_000016.6(ACADM):c.*672T>C rs8763 0.14503
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_002108.4(HAL):c.777A>G (p.Pro259=) rs36014288 0.14272
NM_020686.6(ABAT):c.*2304T>A rs9456 0.14101
NM_020686.6(ABAT):c.*1558G>A rs45515994 0.14096
NM_020686.6(ABAT):c.*2545C>T rs8275 0.14070
NM_020686.6(ABAT):c.*1575A>G rs45615432 0.14064
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=) rs55834942 0.13864
NM_181507.1(HPS5):c.-251C>A rs4150530 0.13814
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_020686.6(ABAT):c.*244C>A rs2270289 0.13709
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_000429.3(MAT1A):c.*982A>T rs1934144 0.13138
NM_175914.5(HNF4A):c.*392T>G rs11086926 0.13032
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_005566.4(LDHA):c.348C>A (p.Ile116=) rs6498 0.12798
NM_002150.3(HPD):c.94-6A>T rs2707072 0.12768
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_000137.3(FAH):c.*310T>A rs75212096 0.12315
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_058179.4(PSAT1):c.*422C>T rs10867185 0.12240
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=) rs9577152 0.11997
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_000545.8(HNF1A):c.*1268G>A rs41279096 0.11781
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_175914.5(HNF4A):c.*2366G>C rs3212211 0.11643
NM_001482.3(GATM):c.-30T>G rs8024550 0.11642
NM_004531.5(MOCS2):c.*1011G>A rs1445940 0.11615
NM_004531.5(MOCS2):c.*1872C>T rs77227647 0.11611
NM_000687.4(AHCY):c.973-7C>T rs17091705 0.11442
NM_000687.4(AHCY):c.*679A>T rs4239 0.11416
NM_004531.5(MOCS2):c.*2032G>A rs75571463 0.11337
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_183235.3(RAB27A):c.*1392A>C rs12907749 0.11078
NM_005589.4(ALDH6A1):c.*2816T>C rs1536 0.11048
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709 0.11004
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_000320.3(QDPR):c.*403A>G rs1049600 0.10881
NM_000320.3(QDPR):c.*408C>T rs1049601 0.10880
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_004531.5(MOCS2):c.*2415C>T rs16880872 0.10619
NM_000161.3(GCH1):c.*732A>G rs45454691 0.10500
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_183235.3(RAB27A):c.*2067C>G rs7168226 0.10411
NM_000274.4(OAT):c.*185C>T rs2459216 0.10300
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000048.4(ASL):c.*265C>T rs465359 0.09815
NM_000048.4(ASL):c.*323G>A rs160643 0.09813
NC_000012.12:g.6867524A>G rs1800200 0.09809
NM_000048.4(ASL):c.*287C>T rs160644 0.09796
NM_000048.4(ASL):c.*268G>C rs462853 0.09790
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_002108.4(HAL):c.921T>C (p.Asn307=) rs11108364 0.09584
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157 0.09544
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_000429.3(MAT1A):c.*995del rs5786439 0.09363
NM_014049.5(ACAD9):c.*31G>A rs9830739 0.09177
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_014252.4(SLC25A15):c.*2328G>T rs9577154 0.08819
NM_000365.6(TPI1):c.*420T>C rs58194764 0.08694
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_001482.3(GATM):c.*913G>A rs17618637 0.08643
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=) rs41396747 0.08535
NM_003597.5(KLF11):c.*544C>A rs4444493 0.08457
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_003597.5(KLF11):c.*435A>T rs72786612 0.07883
NM_014252.4(SLC25A15):c.*929G>C rs17061602 0.07878
NM_000429.3(MAT1A):c.-73A>G rs369803796 0.07734
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401 0.07659
NM_014252.4(SLC25A15):c.*684C>T rs111782657 0.07643
NM_001875.5(CPS1):c.*380C>G rs10932349 0.07637
NM_000161.3(GCH1):c.*1230C>T rs56130647 0.07553
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_002108.4(HAL):c.423A>T (p.Thr141=) rs2302628 0.07463
NM_003060.4(SLC22A5):c.-107G>T rs13180186 0.07430
NM_003060.4(SLC22A5):c.-139G>T rs13180169 0.07424
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000353.3(TAT):c.309G>A (p.Ser103=) rs78302875 0.07372
NM_001358530.2(MOCS1):c.*1893G>C rs3008816 0.07361
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_020686.6(ABAT):c.1270-4A>G rs12447235 0.07354
NM_014252.4(SLC25A15):c.*610G>T rs7320743 0.07290
NM_001080.3(ALDH5A1):c.1402+7G>A rs12211574 0.07141
NM_000170.3(GLDC):c.660C>T (p.Leu220=) rs2228095 0.07130
NM_001080.3(ALDH5A1):c.*2115C>T rs34809203 0.07077
NM_001080.3(ALDH5A1):c.*2766G>A rs13197086 0.07032
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_001358530.2(MOCS1):c.*824C>G rs11968491 0.06790
NM_000137.3(FAH):c.*284C>G rs79203348 0.06789
NM_001358530.2(MOCS1):c.583+10T>A rs34757428 0.06768
NM_001701.4(BAAT):c.-116G>A rs117775873 0.06702
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_183050.4(BCKDHB):c.*832C>T rs60566469 0.06661
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_002108.4(HAL):c.*1499A>G rs3812807 0.06609
NM_000320.3(QDPR):c.345G>A (p.Ser115=) rs3733570 0.06567
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033 0.06532
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_000170.3(GLDC):c.438G>A (p.Thr146=) rs13289273 0.06458
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000274.4(OAT):c.*535T>C rs8182 0.06407
NM_014252.4(SLC25A15):c.*1641G>T rs149457069 0.06406
NM_001080.3(ALDH5A1):c.*1268C>A rs12190214 0.06392
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348 0.06385
NM_000284.4(PDHA1):c.*614G>T rs5955761 0.06313
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875 0.06302
NM_000289.6(PFKM):c.246G>A (p.Thr82=) rs2228501 0.06196
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_001358530.2(MOCS1):c.*451C>T rs41273136 0.06093
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_000284.4(PDHA1):c.*1598G>C rs11094770 0.06012
NM_005589.4(ALDH6A1):c.*494A>T rs77324906 0.05972
NM_000545.8(HNF1A):c.*603G>A rs11065390 0.05950
NM_020686.6(ABAT):c.*1210T>C rs17674530 0.05905
NM_000081.4(LYST):c.2316C>T (p.Asp772=) rs16832868 0.05899
NM_000081.4(LYST):c.5847G>C (p.Gln1949His) rs6665568 0.05891
NM_005589.4(ALDH6A1):c.*642C>T rs4646864 0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=) rs34466404 0.05877
NM_000531.6(OTC):c.718-14T>C rs55722856 0.05854
NM_004531.5(MOCS2):c.*1673T>C rs73756617 0.05783
NM_001358530.2(MOCS1):c.*1334A>C rs3749999 0.05702
NM_016180.5(SLC45A2):c.814G>A (p.Glu272Lys) rs26722 0.05621
NM_000275.3(OCA2):c.2058A>C (p.Ala686=) rs1800416 0.05476
NM_000429.3(MAT1A):c.*1092C>G rs41284062 0.05472
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585 0.05422
NM_004577.4(PSPH):c.*406G>A rs145544909 0.05387
NM_004577.4(PSPH):c.*490C>T rs71543776 0.05383
NM_004577.4(PSPH):c.*11C>T rs35136814 0.05380
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_000161.3(GCH1):c.-40C>T rs28458175 0.05363
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_000161.3(GCH1):c.*1183C>T rs76009965 0.05289
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_003477.3(PDHX):c.*173G>A rs75863418 0.05112
NM_000016.6(ACADM):c.*773G>A rs61612438 0.05111
NM_003477.3(PDHX):c.*200T>C rs16926653 0.05109
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941 0.05105
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_003477.3(PDHX):c.241+3G>A rs78878052 0.04995
NM_003477.3(PDHX):c.*890T>C rs1049333 0.04989
NM_000161.3(GCH1):c.-131C>T rs115939621 0.04950
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407 0.04917
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_001080.3(ALDH5A1):c.610-5C>T rs76752785 0.04857
NM_001080.3(ALDH5A1):c.*2059C>T rs13196003 0.04759
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NM_001080.3(ALDH5A1):c.*385G>C rs13218365 0.04756
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_020686.6(ABAT):c.*1333A>G rs17566580 0.04725
NM_001352514.2(HLCS):c.*521C>T rs9967991 0.04663
NM_001715.3(BLK):c.*92G>C rs14053 0.04621
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_000550.3(TYRP1):c.259C>A (p.Arg87=) rs34509359 0.04615
NM_000137.4(FAH):c.1180+4A>G rs60585303 0.04595
NM_000195.5(HPS1):c.*694C>T rs7075480 0.04558
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_001358530.2(MOCS1):c.*987C>T rs7758412 0.04471
NM_000550.3(TYRP1):c.729T>C (p.Ser243=) rs35866166 0.04447
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.*473G>A rs3830019 0.04437
NM_001358530.2(MOCS1):c.*378G>A rs11968529 0.04433
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_000161.3(GCH1):c.*1056_*1057insAT rs144676716 0.04397
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_020686.6(ABAT):c.*298C>T rs737694 0.04305
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_183050.4(BCKDHB):c.*236G>A rs145101575 0.04280
NM_000550.3(TYRP1):c.-161G>T rs7867043 0.04161
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_000161.3(GCH1):c.*1142G>A rs10151500 0.04130
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_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_000353.3(TAT):c.1173G>A (p.Glu391=) rs16973331 0.04038
NM_000429.3(MAT1A):c.*299G>A rs7097297 0.04036
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val) rs73400312 0.04004
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138 0.03810
NM_000429.3(MAT1A):c.*569C>G rs78720701 0.03798
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769 0.03639
NM_001701.4(BAAT):c.*1090A>G rs76498584 0.03623
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_002300.8(LDHB):c.-81G>C rs74069329 0.03540
NM_000429.3(MAT1A):c.*529G>A rs10509413 0.03535
NM_014252.4(SLC25A15):c.*1626A>G rs59670947 0.03522
NM_002108.4(HAL):c.-127C>A rs11108369 0.03510
NM_001902.6(CTH):c.*544G>A rs45615634 0.03474
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_000320.3(QDPR):c.255C>T (p.Cys85=) rs12645938 0.03464
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_014252.4(SLC25A15):c.*2097T>A rs17592947 0.03453
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_003748.4(ALDH4A1):c.*502A>G rs1802783 0.03425
NM_005589.4(ALDH6A1):c.*2994A>C rs114251476 0.03392
NM_001080.3(ALDH5A1):c.*2581T>C rs41271789 0.03364
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001358530.2(MOCS1):c.*1928C>G rs73414848 0.03274
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_000045.3(ARG1):c.-65C>T rs17788484 0.03152
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_001358530.2(MOCS1):c.583+6C>T rs111409017 0.03125
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081 0.03085
NM_014252.4(SLC25A15):c.*48T>A rs145530626 0.03065
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_000290.4(PGAM2):c.324G>A (p.Gly108=) rs112828964 0.02943
NM_181507.2(HPS5):c.*1068T>A rs112456564 0.02934
NM_000458.4(HNF1B):c.*777G>A rs17138512 0.02929
NM_181507.2(HPS5):c.*443T>A rs74602396 0.02922
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158 0.02911
NM_000458.4(HNF1B):c.*47T>G rs8068014 0.02908
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_000429.3(MAT1A):c.*1292G>C rs58141836 0.02887
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_003597.5(KLF11):c.*1781T>C rs6722205 0.02856
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_001875.5(CPS1):c.*829T>C rs79296773 0.02814
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_003477.3(PDHX):c.641+4T>C rs2767035 0.02645
NM_000365.6(TPI1):c.544-10C>G rs115061797 0.02638
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807 0.02629
NM_000709.4(BCKDHA):c.*309A>G rs10421626 0.02605
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_014049.5(ACAD9):c.787T>C (p.Leu263=) rs1979529 0.02566
NM_000429.3(MAT1A):c.-153C>T rs11595587 0.02552
NM_005589.4(ALDH6A1):c.*1032C>T rs146306002 0.02550
NM_000170.3(GLDC):c.666T>C (p.Asp222=) rs12004164 0.02547
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375 0.02544
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_000187.4(HGD):c.1191A>C (p.Ala397=) rs137923025 0.02463
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_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg) rs4646832 0.02421
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573 0.02419
NM_001918.5(DBT):c.*8977T>C rs113536022 0.02409
NM_004531.5(MOCS2):c.*566C>T rs41308287 0.02408
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_000365.6(TPI1):c.631+13G>A rs60115912 0.02344
NM_020686.6(ABAT):c.*1501A>G rs17651562 0.02340
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_000275.3(OCA2):c.*50A>G rs7175266 0.02314
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_001080.3(ALDH5A1):c.*1407A>G rs73386199 0.02304
NM_001080.3(ALDH5A1):c.*302G>A rs74807590 0.02295
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416 0.02292
NM_001080.3(ALDH5A1):c.*765G>A rs11558625 0.02287
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_001358530.2(MOCS1):c.*734C>G rs1063171 0.02273
NM_002150.3(HPD):c.338G>A (p.Arg113Gln) rs11833399 0.02263
NM_001358530.2(MOCS1):c.645+9G>C rs73732319 0.02256
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_175914.5(HNF4A):c.*700T>C rs114764820 0.02223
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_032383.5(HPS3):c.-70T>C rs13089410 0.02214
NM_058179.4(PSAT1):c.*252G>C rs17064358 0.02208
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000187.4(HGD):c.372C>T (p.Asp124=) rs140977117 0.02164
NM_001701.4(BAAT):c.*1998T>C rs10123365 0.02163
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_183235.3(RAB27A):c.*731G>T rs76097718 0.02129
NM_001701.4(BAAT):c.*1041A>C rs41316534 0.02125
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142 0.02099
NM_000353.3(TAT):c.*110C>T rs113110476 0.02095
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val) rs1800574 0.02065
NM_001918.5(DBT):c.*4872A>G rs12044663 0.02047
NM_001715.3(BLK):c.258G>A (p.Gln86=) rs56185487 0.02041
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001080.3(ALDH5A1):c.*2985C>T rs114960321 0.02020
NM_175914.5(HNF4A):c.*1832G>A rs4812832 0.02019
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_001701.4(BAAT):c.*1884G>A rs10120225 0.02003
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_053013.4(ENO3):c.-88G>A rs73343373 0.01987
NM_014049.5(ACAD9):c.*68C>T rs116106966 0.01973
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_002300.8(LDHB):c.879A>G (p.Pro293=) rs4828 0.01958
NM_000387.6(SLC25A20):c.*698G>A rs14828 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_001918.5(DBT):c.*470G>A rs148424011 0.01941
NM_001352514.2(HLCS):c.*547C>T rs116526486 0.01940
NM_001032386.2(SUOX):c.-32C>T rs705703 0.01929
NM_005589.4(ALDH6A1):c.*2680A>G rs10139971 0.01924
NM_001875.5(CPS1):c.*754T>G rs73078125 0.01899
NM_014252.4(SLC25A15):c.*898C>T rs12585190 0.01899
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_001701.4(BAAT):c.911T>C (p.Val304Ala) rs61755096 0.01872
NM_183050.4(BCKDHB):c.*1158T>G rs74705661 0.01826
NM_000137.4(FAH):c.*88C>T rs113381157 0.01818
NM_183050.4(BCKDHB):c.*726A>G rs147544283 0.01811
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_181507.2(HPS5):c.*702A>T rs79086536 0.01805
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_001002755.2(NFU1):c.-166T>C rs73934936 0.01772
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_005589.4(ALDH6A1):c.*2361G>A rs112689182 0.01755
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_003477.3(PDHX):c.*123A>G rs59918794 0.01748
NM_005589.4(ALDH6A1):c.*1623C>T rs112962625 0.01722
NM_005589.4(ALDH6A1):c.*1015C>T rs144507608 0.01721
NM_000017.4(ACADS):c.*387A>G rs11065238 0.01712
NM_000275.3(OCA2):c.2165T>C (p.Ile722Thr) rs1800417 0.01681
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_175914.5(HNF4A):c.*2533G>A rs76705771 0.01679
NM_001715.3(BLK):c.435C>T (p.Ala145=) rs7836533 0.01672
NM_003124.5(SPR):c.-7C>G rs184034436 0.01663
NM_014251.3(SLC25A13):c.*175A>G rs144877897 0.01662
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_183235.3(RAB27A):c.-142-5A>G rs61436564 0.01642
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_053013.4(ENO3):c.1235+3A>G rs73973669 0.01622
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_000275.3(OCA2):c.1113C>T (p.Gly371=) rs1800405 0.01593
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His) rs8192556 0.01580
NM_000161.3(GCH1):c.*1915T>C rs17128017 0.01571
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_001080.3(ALDH5A1):c.727-15T>C rs13362724 0.01562
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261 0.01561
NM_000372.5(TYR):c.178C>T (p.Leu60=) rs1939260 0.01556
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_005589.4(ALDH6A1):c.*1181G>A rs150649694 0.01512
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000017.4(ACADS):c.*500G>A rs639667 0.01483
NM_000290.4(PGAM2):c.216C>T (p.Asp72=) rs111656877 0.01481
NM_020686.6(ABAT):c.*1819G>A rs78819878 0.01479
NM_020686.6(ABAT):c.*318T>C rs78352097 0.01478
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_001033044.4(GLUL):c.-14+1136G>T rs4110992 0.01462
NM_183235.3(RAB27A):c.*842G>A rs59982153 0.01444
NM_001080.3(ALDH5A1):c.726+3G>A rs114082057 0.01442
NM_000275.3(OCA2):c.1844A>G (p.His615Arg) rs1800414 0.01432
NM_000274.4(OAT):c.-53C>T rs117824913 0.01420
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_001701.4(BAAT):c.*312A>G rs41281025 0.01409
NM_001033044.4(GLUL):c.*1364G>A rs115448180 0.01401
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) rs76646410 0.01339
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_001033044.4(GLUL):c.*1958G>A rs79056692 0.01333
NM_001033044.4(GLUL):c.*1340C>A rs78220577 0.01330
NM_001033044.4(GLUL):c.*547C>A rs76673199 0.01330
NM_020686.6(ABAT):c.*99G>C rs76717569 0.01330
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_000458.4(HNF1B):c.*804T>C rs75361710 0.01316
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862 0.01287
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_002150.3(HPD):c.1018G>T (p.Val340Leu) rs36023382 0.01235
NM_000071.3(CBS):c.*81G>A rs115406358 0.01211
NM_000365.6(TPI1):c.544-14G>A rs72661109 0.01198
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_000137.4(FAH):c.-34C>T rs142522569 0.01180
NM_001358530.2(MOCS1):c.*1136A>C rs60326448 0.01180
NM_001358530.2(MOCS1):c.*1002C>T rs115706925 0.01175
NM_175914.5(HNF4A):c.*155G>A rs41280258 0.01170
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_000525.4(KCNJ11):c.*376C>T rs5208 0.01164
NM_001701.4(BAAT):c.*1029A>T rs74606977 0.01162
NM_000365.6(TPI1):c.*341C>T rs1804544 0.01157
NM_001701.4(BAAT):c.350A>G (p.Lys117Arg) rs115215226 0.01157
NM_183050.4(BCKDHB):c.*440A>T rs113404985 0.01152
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_183235.3(RAB27A):c.*2349A>G rs76970799 0.01147
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) rs41302073 0.01144
NM_014252.4(SLC25A15):c.*1945G>A rs114817943 0.01135
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01125
NM_005589.4(ALDH6A1):c.*2517T>C rs145794069 0.01119
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_014252.4(SLC25A15):c.*1494A>G rs113342797 0.01105
NM_000429.3(MAT1A):c.*1298G>A rs143751338 0.01100
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415 0.01098
NM_005566.4(LDHA):c.387G>A (p.Pro129=) rs61752915 0.01092
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_014049.5(ACAD9):c.*331T>G rs114763241 0.01039
NM_001033044.4(GLUL):c.825G>A (p.Glu275=) rs35378126 0.01038
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000284.4(PDHA1):c.*1563C>G rs7883708 0.01025
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_014251.3(SLC25A13):c.675G>A (p.Ser225=) rs78247004 0.01022
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_000284.4(PDHA1):c.*1682T>C rs55744630 0.00998
NM_004531.5(MOCS2):c.*2582A>C rs12518145 0.00995
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_005589.4(ALDH6A1):c.*1006C>T rs146605362 0.00981
NM_001002755.4(NFU1):c.411T>C (p.Ile137=) rs12474866 0.00978
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_024747.6(HPS6):c.1764G>A (p.Gln588=) rs145597717 0.00963
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000353.3(TAT):c.*1276T>A rs75855289 0.00941
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_001701.4(BAAT):c.*160T>C rs139712344 0.00931
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_020686.6(ABAT):c.168+12A>G rs75151311 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_005589.4(ALDH6A1):c.*980A>G rs148780249 0.00914
NM_001033044.4(GLUL):c.*1411C>T rs1058806 0.00912
NM_001701.4(BAAT):c.*955A>G rs41301517 0.00912
NM_005589.4(ALDH6A1):c.731-12T>C rs10146187 0.00912
NM_000289.6(PFKM):c.*282C>T rs8977 0.00906
NM_181507.2(HPS5):c.-142C>T rs4150528 0.00903
NM_054012.3(ASS1):c.-172C>T rs142263406 0.00899
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_000187.4(HGD):c.1179T>C (p.Asp393=) rs146482816 0.00886
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_001080.3(ALDH5A1):c.*2597A>G rs150044083 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001875.5(CPS1):c.1359+7G>A rs16844647 0.00860
NM_001080.3(ALDH5A1):c.*814G>T rs9461036 0.00853
NM_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.00851
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_004531.5(MOCS2):c.*321A>G rs73756618 0.00849
NM_001033044.4(GLUL):c.*966A>G rs7543200 0.00834
NM_001080.3(ALDH5A1):c.*1286A>G rs9467217 0.00833
NM_001875.5(CPS1):c.-29T>G rs147937942 0.00830
NM_005589.4(ALDH6A1):c.*2298G>A rs76665287 0.00830
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745 0.00828
NM_000429.3(MAT1A):c.169+14G>A rs117321518 0.00826
NM_000525.4(KCNJ11):c.*76G>A rs193076739 0.00819
NM_000137.4(FAH):c.165C>T (p.Leu55=) rs28733633 0.00811
NM_000275.3(OCA2):c.1752C>T (p.His584=) rs151225947 0.00803
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000071.3(CBS):c.*566G>A rs111969522 0.00793
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_003597.5(KLF11):c.*194G>A rs76220150 0.00789
NM_004577.4(PSPH):c.-429G>T rs145447387 0.00789
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752 0.00788
NM_000274.4(OAT):c.200-10T>C rs80313473 0.00780
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_002300.8(LDHB):c.421+13A>G rs76163762 0.00759
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619 0.00755
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_004577.4(PSPH):c.*8T>C rs140998795 0.00754
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_020166.5(MCCC1):c.-24A>G rs11540930 0.00749
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_001358530.2(MOCS1):c.*578C>T rs147395035 0.00739
NM_002500.5(NEUROD1):c.-65C>T rs8192555 0.00739
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_003597.5(KLF11):c.*235T>C rs150051327 0.00733
NM_003124.5(SPR):c.*432G>A rs61518691 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_181507.1(HPS5):c.-250G>T rs4150529 0.00728
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_001918.5(DBT):c.*7358C>T rs143822588 0.00725
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267 0.00722
NM_058179.4(PSAT1):c.*251C>T rs76966550 0.00717
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_001918.5(DBT):c.*8944A>G rs77587629 0.00713
NM_020686.6(ABAT):c.*31C>T rs147333757 0.00712
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_183235.3(RAB27A):c.*387A>G rs73407873 0.00697
NM_000525.4(KCNJ11):c.*766G>A rs193101892 0.00683
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_001358530.2(MOCS1):c.*1405G>C rs3749998 0.00676
NM_001358530.2(MOCS1):c.*1113T>G rs3828937 0.00672
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_002150.3(HPD):c.345C>T (p.Ala115=) rs59741465 0.00670
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_001715.3(BLK):c.472+12G>A rs145058498 0.00652
NM_005589.4(ALDH6A1):c.*1514A>G rs115564279 0.00652
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_000137.4(FAH):c.139A>G (p.Lys47Glu) rs34749737 0.00650
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_001080.3(ALDH5A1):c.*1473G>A rs75854500 0.00638
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_000525.4(KCNJ11):c.*92C>T rs5212 0.00626
NM_001002755.4(NFU1):c.-6A>G rs116604978 0.00625
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00625
NM_001875.5(CPS1):c.*314T>A rs115293884 0.00624
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_003597.5(KLF11):c.*107G>A rs140559044 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_014251.3(SLC25A13):c.1374G>A (p.Val458=) rs115266882 0.00605
NM_001918.5(DBT):c.*4094C>A rs74825164 0.00603
NM_001032386.2(SUOX):c.-107C>T rs114410290 0.00602
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_000525.4(KCNJ11):c.*288G>A rs5209 0.00590
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_001080.3(ALDH5A1):c.*2219T>C rs150916849 0.00589
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_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_000161.3(GCH1):c.-69G>C rs533157442 0.00580
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_005589.4(ALDH6A1):c.*2157C>T rs116025535 0.00573
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_003597.5(KLF11):c.*882G>A rs183240123 0.00564
NM_000178.4(GSS):c.*90A>G rs35747685 0.00563
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018 0.00536
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_000187.4(HGD):c.283-4C>T rs7652072 0.00530
NM_005518.4(HMGCS2):c.*822G>A rs116264779 0.00529
NM_000429.3(MAT1A):c.*275C>T rs76913733 0.00528
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_181507.2(HPS5):c.-91C>G rs4150527 0.00513
NM_000525.4(KCNJ11):c.*529G>A rs115826080 0.00510
NM_000429.3(MAT1A):c.1005C>T (p.Tyr335=) rs61734474 0.00509
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_004531.5(MOCS2):c.*2651G>T rs150871292 0.00506
NM_001715.3(BLK):c.-165G>T rs139110057 0.00505
NM_000365.6(TPI1):c.*39G>A rs12692 0.00504
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_001701.4(BAAT):c.*895C>T rs16936057 0.00500
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_000458.4(HNF1B):c.-67C>T rs140699244 0.00491
NM_000274.4(OAT):c.-38C>T rs9422945 0.00489
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_153006.3(NAGS):c.284C>T (p.Pro95Leu) rs200607114 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_005589.4(ALDH6A1):c.1455C>T (p.Thr485=) rs147004133 0.00477
NM_183235.3(RAB27A):c.*472A>C rs116723038 0.00475
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_020166.5(MCCC1):c.-25C>A rs149741951 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_001482.3(GATM):c.*847G>A rs1145087 0.00446
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_183235.3(RAB27A):c.*1013T>C rs190724892 0.00420
NM_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995 0.00416
NM_001715.3(BLK):c.753A>G (p.Gln251=) rs76563369 0.00416
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_020686.6(ABAT):c.1452C>T (p.His484=) rs61730647 0.00407
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_001033044.4(GLUL):c.*1276C>T rs143904819 0.00400
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218 0.00399
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_000525.4(KCNJ11):c.*1168G>A rs182349583 0.00391
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_003124.5(SPR):c.785A>G (p.Ter262=) rs145082655 0.00380
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_003597.5(KLF11):c.*262C>T rs147746428 0.00373
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_001918.5(DBT):c.*2810A>G rs116578353 0.00337
NM_001918.5(DBT):c.*5347C>T rs116806523 0.00337
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00337
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_000481.4(AMT):c.-1G>A rs143841175 0.00328
NM_000545.8(HNF1A):c.*214G>A rs191295371 0.00327
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_000525.4(KCNJ11):c.*686A>G rs147282653 0.00324
NM_020686.6(ABAT):c.366+11G>T rs141893184 0.00318
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_003597.5(KLF11):c.*241A>G rs191010106 0.00309
NM_003597.5(KLF11):c.*980T>C rs113527829 0.00303
NM_000187.4(HGD):c.711C>A (p.Arg237=) rs147204182 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_005518.4(HMGCS2):c.-11C>T rs2289459 0.00299
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_020686.6(ABAT):c.*32G>A rs737696 0.00296
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_000525.4(KCNJ11):c.*848A>G rs5206 0.00291
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000545.8(HNF1A):c.276C>T (p.Leu92=) rs34056805 0.00269
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_000284.4(PDHA1):c.*1208A>C rs369499936 0.00252
NM_002500.4(NEUROD1):c.*1595G>A rs187310461 0.00252
NM_000161.3(GCH1):c.*93G>A rs41298438 0.00249
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_005518.4(HMGCS2):c.*12A>C rs182407677 0.00238
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008 0.00222
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_000458.4(HNF1B):c.*659G>A rs182736930 0.00215
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_000284.4(PDHA1):c.*857A>G rs182836908 0.00208
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_020686.6(ABAT):c.*204A>G rs141010230 0.00205
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_000284.4(PDHA1):c.*864G>A rs192450087 0.00203
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_175914.5(HNF4A):c.*76G>A rs11574743 0.00191
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_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403 0.00182
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_020686.6(ABAT):c.*2744G>C rs192892941 0.00171
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_004577.4(PSPH):c.126C>T (p.Asp42=) rs75497420 0.00168
NM_003060.4(SLC22A5):c.-234C>G rs4646300 0.00165
NM_175914.5(HNF4A):c.*1783G>T rs564110189 0.00161
NM_003597.5(KLF11):c.*2144C>T rs139703378 0.00157
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_003597.5(KLF11):c.*2026G>C rs146068438 0.00152
NM_000161.3(GCH1):c.*736A>G rs150176097 0.00151
NM_001918.5(DBT):c.*594A>G rs147781191 0.00150
NM_175914.5(HNF4A):c.*446G>A rs548013860 0.00147
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_014252.4(SLC25A15):c.*420T>G rs75842883 0.00141
NM_014252.4(SLC25A15):c.*159C>G rs9577153 0.00139
NM_001033044.4(GLUL):c.768C>T (p.Phe256=) rs6684136 0.00138
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_000137.4(FAH):c.921A>G (p.Gly307=) rs76338717 0.00135
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619 0.00133
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_000550.3(TYRP1):c.98T>C (p.Val33Ala) rs146838872 0.00128
NM_000458.4(HNF1B):c.*683G>A rs144234352 0.00126
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_005566.4(LDHA):c.*243C>G rs76818137 0.00121
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_000284.4(PDHA1):c.*1345A>G rs193253848 0.00110
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_000365.6(TPI1):c.321T>C (p.Asp107=) rs141972556 0.00104
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=) rs61737367 0.00101
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_000531.6(OTC):c.-48G>T rs182454762 0.00090
NM_000161.3(GCH1):c.*1044G>A rs143961472 0.00088
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala) rs2233215 0.00075
NM_004531.5(MOCS2):c.*735G>A rs144697442 0.00074
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_020686.6(ABAT):c.*2986T>C rs79763179 0.00071
NM_024747.6(HPS6):c.1692C>T (p.Pro564=) rs147449083 0.00070
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00064
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000170.3(GLDC):c.936C>T (p.Ile312=) rs79057118 0.00058
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000161.3(GCH1):c.*12T>C rs190993883 0.00057
NM_002500.4(NEUROD1):c.*1339T>C rs17847284 0.00056
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056
NM_000545.8(HNF1A):c.*939G>A rs751401246 0.00054
NM_000170.3(GLDC):c.470+11T>C rs142534180 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870 0.00049
NM_002150.3(HPD):c.294C>T (p.Phe98=) rs117079110 0.00048
NM_001701.4(BAAT):c.1134C>T (p.His378=) rs118089324 0.00047
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00047
NM_000387.6(SLC25A20):c.*357C>T rs78776342 0.00046
NM_003597.5(KLF11):c.*612C>T rs187519040 0.00045
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_175914.5(HNF4A):c.*7G>A rs186057842 0.00043
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00041
NM_000045.4(ARG1):c.57G>A (p.Gln19=) rs150766204 0.00039
NM_001033044.4(GLUL):c.*2516A>G rs140277335 0.00039
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_005589.4(ALDH6A1):c.1604G>A (p.Arg535His) rs183066442 0.00038
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_000178.4(GSS):c.*2G>A rs36000727 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_000161.3(GCH1):c.*1130C>G rs543818323 0.00031
NM_000365.6(TPI1):c.*388C>T rs540279409 0.00031
NM_020686.6(ABAT):c.684G>A (p.Thr228=) rs148143485 0.00030
NM_000045.4(ARG1):c.594T>C (p.Phe198=) rs149496218 0.00029
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp) rs77938727 0.00026
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu) rs201735305 0.00023
NM_001715.3(BLK):c.1349G>A (p.Arg450His) rs202162624 0.00022
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418 0.00020
NM_000275.3(OCA2):c.1160C>T (p.Thr387Met) rs150335311 0.00019
NM_000545.8(HNF1A):c.*447T>A rs143731661 0.00019
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018
NM_000531.6(OTC):c.*106G>A rs766318571 0.00017
NM_000458.4(HNF1B):c.*403A>G rs557216745 0.00016
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_000161.3(GCH1):c.*256A>G rs181674470 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000525.4(KCNJ11):c.*697G>A rs117976105 0.00014
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_000284.4(PDHA1):c.*707G>A rs150945967 0.00012
NM_000284.4(PDHA1):c.*1450C>T rs747229060 0.00011
NM_002500.5(NEUROD1):c.*1033T>G rs555224400 0.00011
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_000137.4(FAH):c.1209C>T (p.Ile403=) rs111345782 0.00009
NM_014049.5(ACAD9):c.*26C>T rs373417322 0.00009
NM_183050.4(BCKDHB):c.*763G>A rs563470467 0.00008
NM_175914.5(HNF4A):c.*3018G>A rs533361991 0.00007
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777 0.00006
NM_000170.3(GLDC):c.2920-8C>T rs138786708 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_003597.5(KLF11):c.1450G>A (p.Gly484Ser) rs750063435 0.00006
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala) rs201890453 0.00005
NM_001715.3(BLK):c.369-2A>G rs137986278 0.00005
NM_001875.5(CPS1):c.*658A>G rs559191307 0.00005
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_000161.3(GCH1):c.*1010C>T rs764569623 0.00004
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
NM_001715.3(BLK):c.672C>T (p.Ala224=) rs201252364 0.00004
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_000161.3(GCH1):c.509+8T>A rs753570450 0.00003
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00002
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg) rs556400603 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_000048.4(ASL):c.1388A>G (p.Gln463Arg) rs200363489 0.00001
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000353.3(TAT):c.133C>T (p.Pro45Ser) rs575372249 0.00001
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_002500.5(NEUROD1):c.*6C>A rs576676213 0.00001
NM_003597.5(KLF11):c.*192T>C rs552960564 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NC_000008.11:g.93916851T>A rs4469422
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*681A>G rs111413325
NM_000071.3(CBS):c.*98CTGGC[1] rs71872941
NM_000081.4(LYST):c.*1275T>C
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*446T>C
NM_000081.4(LYST):c.*685G>T
NM_000081.4(LYST):c.*725G>A
NM_000081.4(LYST):c.-134G>C
NM_000096.4(CP):c.*828dup rs35907111
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000137.4(FAH):c.554-15C>T rs774367598
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1176C>G rs113211390
NM_000161.3(GCH1):c.*677G>A rs10136966
NM_000161.3(GCH1):c.*727A>G rs138578359
NM_000161.3(GCH1):c.*830A>T rs542811477
NM_000161.3(GCH1):c.*883CTT[3] rs145762799
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000170.3(GLDC):c.*410G>C rs35834773
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000274.4(OAT):c.-59G>C rs144950523
NM_000275.3(OCA2):c.2208G>A (p.Ser736=) rs1800418
NM_000275.3(OCA2):c.722C>G (p.Pro241Arg) rs2305253
NM_000284.4(PDHA1):c.*1013C>A rs1042456
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*525C>G rs778207227
NM_000289.6(PFKM):c.*163G>A rs370250637
NM_000298.6(PKLR):c.*13T>C rs1052177
NM_000320.3(QDPR):c.*682A>G rs699459
NM_000429.3(MAT1A):c.*1599_*1600insTTCAGGCTGG rs145159688
NM_000429.3(MAT1A):c.*863G>A rs41284064
NM_000429.3(MAT1A):c.-90GAA[8] rs10694757
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.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.657C>T (p.Ser219=) rs148713761
NM_000525.4(KCNJ11):c.*62G>A rs5213
NM_000550.3(TYRP1):c.*294AAGT[1] rs71329877
NM_000550.3(TYRP1):c.*468ATTA[1] rs71329878
NM_000687.4(AHCY):c.*301T>G rs13245
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000925.4(PDHB):c.*92C>A rs4228
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001033044.4(GLUL):c.*1909_*1910insTCATTT rs3028837
NM_001033044.4(GLUL):c.*1913A>T rs4517308
NM_001033044.4(GLUL):c.*2631G>A rs2296522
NM_001033044.4(GLUL):c.-14+892G>A rs192236496
NM_001080.3(ALDH5A1):c.*1294C>T rs114422378
NM_001080.3(ALDH5A1):c.*1392C>A rs116311769
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1775_*1778dup rs112997952
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
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_001482.3(GATM):c.*125G>A rs143689218
NM_001482.3(GATM):c.*595C>A rs75565512
NM_001482.3(GATM):c.*734_*735insCA rs35410548
NM_001701.4(BAAT):c.*1475G>A rs10120345
NM_001701.4(BAAT):c.*1886T>C rs10123392
NM_001701.4(BAAT):c.602G>C (p.Arg201Pro) rs41281027
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_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_002065.6(GLUL):c.-706C>T rs60442279
NM_002065.6(GLUL):c.-718G>C rs116040694
NM_002108.4(HAL):c.*1312C>T rs1059845
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_003060.4(SLC22A5):c.*92del rs142209594
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-319G>A rs2956113
NM_003477.2(PDHX):c.-506T>C rs2016814
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_003664.5(AP3B1):c.280-6dup rs5868908
NM_004531.5(MOCS2):c.*1544C>A rs16880873
NM_004577.4(PSPH):c.-19-4G>A rs200942360
NM_004577.4(PSPH):c.117C>T (p.Gly39=) rs199851385
NM_004577.4(PSPH):c.120T>A (p.Val40=) rs202027697
NM_004577.4(PSPH):c.189A>G (p.Thr63=) rs201935398
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro) rs78067484
NM_004577.4(PSPH):c.204C>A (p.Leu68=) rs201644817
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser) rs74445297
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_005518.4(HMGCS2):c.*792G>A rs41313276
NM_005589.4(ALDH6A1):c.*1016G>A rs139735554
NM_005589.4(ALDH6A1):c.*403T>C rs1135885
NM_005589.4(ALDH6A1):c.*403T>G rs1135885
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_014049.5(ACAD9):c.-65GT[4] rs397874507
NM_020686.6(ABAT):c.*1133G>A rs77110218
NM_020686.6(ABAT):c.*1593T>A rs1061842
NM_020686.6(ABAT):c.*165A>T rs55638039
NM_020686.6(ABAT):c.*242G>T rs2270288
NM_020686.6(ABAT):c.540+14CA[12] rs35745596
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_175914.5(HNF4A):c.*2256C>G rs537829031
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_183050.4(BCKDHB):c.*559_*560del rs10579475

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