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
|
|