ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 949
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.*2060T>C rs191429370 0.00522
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_004830.4(MED23):c.4080G>T (p.Val1360=) rs138742804 0.00372
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_000642.3(AGL):c.*832G>A rs181486858 0.00261
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_000642.2(AGL):c.-208C>T rs563389574 0.00192
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_002863.5(PYGL):c.*78G>A rs190588867 0.00133
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212 0.00128
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000152.5(GAA):c.*288G>T rs568131293 0.00113
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_000642.3(AGL):c.*1766G>A rs564167641 0.00110
NM_000642.3(AGL):c.*604A>G rs189939228 0.00106
NM_003619.4(PRSS12):c.821-1G>A rs147303693 0.00106
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu) rs200444154 0.00100
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760 0.00095
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_002294.3(LAMP2):c.*1413A>G rs773379092 0.00076
NM_002294.3(LAMP2):c.*3488C>T rs773236667 0.00074
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro) rs150800688 0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro) rs562249191 0.00066
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly) rs147671523 0.00058
NM_000642.2(AGL):c.-134C>G rs548243205 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00056
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00056
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) rs143778652 0.00056
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) rs150200902 0.00056
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651 0.00054
NM_005327.4(HADH):c.-115delG rs537335460 0.00053
NM_000642.3(AGL):c.*595A>G rs763929813 0.00051
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022 0.00051
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065 0.00051
NM_000208.4(INSR):c.2573C>T (p.Thr858Met) rs201466857 0.00048
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_000642.3(AGL):c.*564T>C rs552782825 0.00045
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp) rs141441030 0.00045
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His) rs139041112 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00043
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) rs375754042 0.00042
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr) rs564129447 0.00041
NM_001041.4(SI):c.2737G>T (p.Val913Phe) rs200328496 0.00041
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) rs112622137 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) rs782644732 0.00039
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00037
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser) rs78433961 0.00036
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln) rs141379798 0.00036
NM_000545.8(HNF1A):c.1501+6C>T rs374306837 0.00035
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00034
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr) rs142008108 0.00034
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00032
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) rs373902181 0.00031
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp) rs376443152 0.00030
NM_000147.4(FUCA1):c.-44G>A rs139832548 0.00029
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) rs144407534 0.00029
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_000352.6(ABCC8):c.1923+3G>A rs374869130 0.00028
NM_001041.4(SI):c.1919A>G (p.Glu640Gly) rs142789249 0.00028
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115 0.00027
NM_002863.5(PYGL):c.1828-9T>A rs372338710 0.00027
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) rs201287443 0.00027
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_001041.4(SI):c.322T>G (p.Phe108Val) rs146006371 0.00026
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070 0.00025
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00024
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000891.3(KCNJ2):c.*3536C>T rs529969829 0.00022
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln) rs115923648 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val) rs115159138 0.00022
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) rs56395521 0.00021
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) rs142868881 0.00021
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00020
NM_001041.4(SI):c.2828G>C (p.Cys943Ser) rs375113759 0.00020
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) rs371611000 0.00019
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser) rs141412905 0.00019
NM_000642.3(AGL):c.*2160C>T rs753401733 0.00019
NM_001041.4(SI):c.1285G>A (p.Ala429Thr) rs556583179 0.00019
NM_001041.4(SI):c.1544G>T (p.Gly515Val) rs144972103 0.00019
NM_175914.5(HNF4A):c.724G>A (p.Val242Met) rs139779712 0.00019
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg) rs147400498 0.00018
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr) rs375443860 0.00018
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile) rs371426683 0.00018
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln) rs146389992 0.00018
NM_031229.4(RBCK1):c.-9C>A rs140276089 0.00018
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr) rs373857078 0.00017
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr) rs140508520 0.00017
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr) rs573292460 0.00017
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys) rs201800716 0.00016
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171 0.00016
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745 0.00016
NM_003597.5(KLF11):c.992G>T (p.Gly331Val) rs151317435 0.00016
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499 0.00016
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00016
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn) rs371314015 0.00015
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799 0.00015
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala) rs148399096 0.00015
NM_000545.8(HNF1A):c.-258A>G rs756136537 0.00015
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser) rs199605698 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_003597.5(KLF11):c.437C>T (p.Ala146Val) rs148968483 0.00015
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651 0.00015
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00014
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770 0.00014
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636 0.00014
NM_000891.3(KCNJ2):c.*1128dup rs777658732 0.00014
NM_000891.3(KCNJ2):c.*213G>A rs886053326 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001041.4(SI):c.2150T>A (p.Val717Asp) rs188320908 0.00014
NM_001041.4(SI):c.325G>A (p.Val109Ile) rs149498200 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000209.4(PDX1):c.296C>A (p.Pro99His) rs764870332 0.00013
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr) rs139760182 0.00013
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749 0.00013
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser) rs538159086 0.00013
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) rs201834329 0.00013
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln) rs1357043267 0.00012
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr) rs147453689 0.00012
NM_001041.4(SI):c.4849G>C (p.Asp1617His) rs202225928 0.00012
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys) rs201397971 0.00011
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys) rs190464963 0.00011
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg) rs137852785 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His) rs145935651 0.00011
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn) rs752219487 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726 0.00011
NM_001041.4(SI):c.5C>A (p.Ala2Glu) rs201612742 0.00011
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) rs150009231 0.00011
NM_001715.3(BLK):c.809C>T (p.Thr270Met) rs368427116 0.00011
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) rs147863207 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg) rs372680556 0.00011
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830 0.00010
NM_000525.4(KCNJ11):c.-54C>T rs1016780684 0.00010
NM_000642.3(AGL):c.*1224C>T rs12563807 0.00010
NM_000642.3(AGL):c.*1691A>G rs886044933 0.00010
NM_000891.3(KCNJ2):c.*3409A>G rs551384883 0.00010
NM_000925.4(PDHB):c.10G>A (p.Val4Met) rs201470762 0.00010
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536 0.00010
NM_001041.4(SI):c.1378A>T (p.Ser460Cys) rs141450837 0.00010
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818 0.00010
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val) rs769398594 0.00010
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln) rs782703235 0.00010
NM_001715.3(BLK):c.139C>G (p.Leu47Val) rs202045056 0.00010
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala) rs587780310 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270 0.00010
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr) rs116527624 0.00010
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00010
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser) rs375647920 0.00009
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00009
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys) rs376546162 0.00009
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp) rs751604358 0.00009
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) rs369970264 0.00009
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741 0.00009
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) rs751917665 0.00009
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His) rs199763382 0.00009
NM_000525.4(KCNJ11):c.*218G>T rs886048039 0.00009
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006 0.00009
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337 0.00009
NM_001041.4(SI):c.1694G>C (p.Ser565Thr) rs149898910 0.00009
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met) rs201233141 0.00009
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu) rs370839177 0.00009
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln) rs375269956 0.00009
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro) rs147634094 0.00009
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro) rs776725808 0.00009
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr) rs369444528 0.00009
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln) rs142883089 0.00009
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met) rs33975915 0.00008
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp) rs200626260 0.00008
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn) rs781480098 0.00008
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser) rs72554079 0.00008
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys) rs770791374 0.00008
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174 0.00008
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00008
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875 0.00008
NM_001041.4(SI):c.3331A>G (p.Ile1111Val) rs145913658 0.00008
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr) rs200327983 0.00008
NM_002076.4(GNS):c.*3dup rs766104697 0.00008
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile) rs755299574 0.00008
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu) rs145588324 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) rs369102740 0.00007
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00007
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743 0.00007
NM_000642.3(AGL):c.846+8T>A rs372517543 0.00007
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr) rs767837260 0.00007
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn) rs775641463 0.00007
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) rs369472089 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_000208.4(INSR):c.1628C>T (p.Thr543Met) rs767160876 0.00006
NM_000289.6(PFKM):c.857G>A (p.Arg286His) rs768496070 0.00006
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr) rs199644680 0.00006
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735 0.00006
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn) rs531684936 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000642.3(AGL):c.*1075T>A rs886044931 0.00006
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312 0.00006
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969 0.00006
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002 0.00006
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040 0.00006
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_001041.4(SI):c.4873T>G (p.Phe1625Val) rs149414344 0.00006
NM_001041.4(SI):c.748C>T (p.Arg250Cys) rs200745562 0.00006
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu) rs782025581 0.00006
NM_001366110.1(PAX4):c.572G>A (p.Arg191His) rs145284016 0.00006
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu) rs774976739 0.00006
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala) rs371605092 0.00006
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg) rs200061013 0.00006
NM_004130.4(GYG1):c.175A>G (p.Ile59Val) rs535548906 0.00006
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met) rs200828053 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=) rs201470953 0.00006
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys) rs202134230 0.00005
NM_000151.4(G6PC1):c.*103C>T rs1032152255 0.00005
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) rs750711451 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1639G>A (p.Val547Met) rs751102729 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2481+15C>T rs771155956 0.00005
NM_000155.4(GALT):c.611G>A (p.Arg204Gln) rs111033740 0.00005
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp) rs200921389 0.00005
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) rs929302665 0.00005
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144 0.00005
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys) rs200308405 0.00005
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe) rs201689857 0.00005
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met) rs200727862 0.00005
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile) rs771882862 0.00005
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser) rs1057517139 0.00005
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln) rs140878602 0.00005
NM_001041.4(SI):c.1420T>C (p.Tyr474His) rs771986263 0.00005
NM_001041.4(SI):c.2074C>T (p.Arg692Cys) rs371618948 0.00005
NM_001041.4(SI):c.2380G>A (p.Gly794Ser) rs138778317 0.00005
NM_001041.4(SI):c.2894G>A (p.Gly965Asp) rs144419320 0.00005
NM_001041.4(SI):c.5300C>T (p.Thr1767Met) rs199881454 0.00005
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val) rs537115620 0.00005
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala) rs202228620 0.00005
NM_002076.4(GNS):c.791C>T (p.Thr264Met) rs575544204 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002299.4(LCT):c.4173+5G>A rs575414951 0.00005
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys) rs764563027 0.00005
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln) rs563767876 0.00005
NM_005609.4(PYGM):c.193G>A (p.Val65Met) rs149658961 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln) rs371557531 0.00005
NM_000035.4(ALDOB):c.401G>A (p.Arg134His) rs145252200 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00004
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009 0.00004
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) rs777473001 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu) rs751025746 0.00004
NM_000203.5(IDUA):c.340C>A (p.Leu114Met) rs372934646 0.00004
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462 0.00004
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp) rs33948878 0.00004
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val) rs368450282 0.00004
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr) rs756552692 0.00004
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val) rs141171091 0.00004
NM_000512.5(GALNS):c.715G>A (p.Val239Ile) rs145131011 0.00004
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val) rs143753579 0.00004
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr) rs201095611 0.00004
NM_000545.8(HNF1A):c.962G>A (p.Arg321His) rs751761766 0.00004
NM_000642.3(AGL):c.*670A>G rs886044927 0.00004
NM_000642.3(AGL):c.1049T>C (p.Met350Thr) rs761122742 0.00004
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378 0.00004
NM_000642.3(AGL):c.2357C>T (p.Thr786Met) rs147586981 0.00004
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404 0.00004
NM_000642.3(AGL):c.3258A>T (p.Ala1086=) rs779468425 0.00004
NM_000642.3(AGL):c.325G>T (p.Val109Leu) rs369068676 0.00004
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser) rs200676705 0.00004
NM_001041.4(SI):c.1943G>A (p.Arg648Lys) rs375458342 0.00004
NM_001041.4(SI):c.2891C>T (p.Thr964Met) rs369115304 0.00004
NM_001041.4(SI):c.3955G>A (p.Val1319Ile) rs376972966 0.00004
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile) rs376437234 0.00004
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys) rs767701775 0.00004
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr) rs369134336 0.00004
NM_001041.4(SI):c.695G>A (p.Arg232His) rs747345955 0.00004
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) rs782480303 0.00004
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) rs782500443 0.00004
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu) rs141105181 0.00004
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys) rs369459316 0.00004
NM_001370658.1(BTD):c.49G>A (p.Val17Met) rs772369148 0.00004
NM_002076.4(GNS):c.415A>G (p.Met139Val) rs142588770 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 0.00004
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln) rs201542440 0.00004
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys) rs780520468 0.00004
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter) rs746104381 0.00004
NM_005908.4(MANBA):c.1131G>C (p.Gln377His) rs762175890 0.00004
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys) rs200133664 0.00004
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) rs141947405 0.00004
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999 0.00004
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_138413.4(HOGA1):c.269T>A (p.Leu90His) rs373226228 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe) rs745919223 0.00004
NM_138413.4(HOGA1):c.538G>A (p.Val180Met) rs114177505 0.00004
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser) rs374892647 0.00004
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro) rs780342162 0.00004
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg) rs747928745 0.00004
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00003
NM_000035.4(ALDOB):c.128G>A (p.Arg43His) rs780442649 0.00003
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385 0.00003
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00003
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) rs762255493 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met) rs765983374 0.00003
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198 0.00003
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) rs752725918 0.00003
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg) rs753881947 0.00003
NM_000209.4(PDX1):c.820G>T (p.Val274Phe) rs930365498 0.00003
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353 0.00003
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser) rs191697443 0.00003
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp) rs778892038 0.00003
NM_000352.6(ABCC8):c.822+3C>T rs370697909 0.00003
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe) rs747110790 0.00003
NM_000512.5(GALNS):c.772G>A (p.Val258Ile) rs779257235 0.00003
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His) rs770609243 0.00003
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His) rs750778014 0.00003
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile) rs149667199 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg) rs373180062 0.00003
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile) rs371759652 0.00003
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val) rs867496787 0.00003
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980 0.00003
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010 0.00003
NM_000891.3(KCNJ2):c.*2698T>C rs368668294 0.00003
NM_001041.4(SI):c.1762C>T (p.Arg588Cys) rs201583834 0.00003
NM_001041.4(SI):c.2566-11A>G rs747570138 0.00003
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys) rs756776020 0.00003
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala) rs768100667 0.00003
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr) rs779805310 0.00003
NM_001041.4(SI):c.417T>G (p.Phe139Leu) rs758407768 0.00003
NM_001041.4(SI):c.5266A>G (p.Ile1756Val) rs535971512 0.00003
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys) rs913893905 0.00003
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128 0.00003
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe) rs775311483 0.00003
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His) rs377180238 0.00003
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn) rs140014588 0.00003
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg) rs371116229 0.00003
NM_001715.3(BLK):c.1089G>A (p.Ala363=) rs55836779 0.00003
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568 0.00003
NM_001715.3(BLK):c.67T>C (p.Trp23Arg) rs574731221 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys) rs757875185 0.00003
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly) rs201792575 0.00003
NM_003597.5(KLF11):c.431T>C (p.Val144Ala) rs753049849 0.00003
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs) rs757141803 0.00003
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe) rs755207439 0.00003
NM_005566.4(LDHA):c.137A>T (p.Asp46Val) rs201460924 0.00003
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro) rs758230758 0.00003
NM_016203.4(PRKAG2):c.-397G>C rs886062106 0.00003
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala) rs776292240 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile) rs377151067 0.00003
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val) rs774111430 0.00003
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met) rs199796094 0.00003
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys) rs748714111 0.00003
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 0.00002
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) rs748788550 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962 0.00002
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120 0.00002
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.446C>T (p.Thr149Met) rs750628023 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) rs779460424 0.00002
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000208.4(INSR):c.2121C>T (p.Gly707=) rs753257847 0.00002
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala) rs1380564366 0.00002
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp) rs201238498 0.00002
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly) rs780873643 0.00002
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln) rs200352654 0.00002
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg) rs777391124 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys) rs1331539684 0.00002
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys) rs1254230359 0.00002
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131 0.00002
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr) rs372585484 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851 0.00002
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu) rs756424776 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys) rs199700264 0.00002
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys) rs765088432 0.00002
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp) rs1261968643 0.00002
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu) rs764483607 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu) rs754306821 0.00002
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905 0.00002
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly) rs1245795149 0.00002
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys) rs768133891 0.00002
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) rs775072430 0.00002
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) rs1464614105 0.00002
NM_001040716.2(PC):c.3034A>G (p.Met1012Val) rs1030212351 0.00002
NM_001041.4(SI):c.1303C>T (p.Arg435Cys) rs370325800 0.00002
NM_001041.4(SI):c.178T>C (p.Ser60Pro) rs755487744 0.00002
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408 0.00002
NM_001041.4(SI):c.653G>T (p.Gly218Val) rs775308282 0.00002
NM_001041.4(SI):c.788G>A (p.Arg263Gln) rs143135955 0.00002
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser) rs782255299 0.00002
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340 0.00002
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr) rs781834870 0.00002
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp) rs376730573 0.00002
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys) rs1556296540 0.00002
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro) rs750441217 0.00002
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) rs753477563 0.00002
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln) rs368207952 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys) rs753533515 0.00002
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) rs370733771 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr) rs763397227 0.00002
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg) rs778171847 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln) rs141267935 0.00001
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val) rs755508323 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val) rs774215572 0.00001
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser) rs753502076 0.00001
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr) rs777552825 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000152.5(GAA):c.1076-3C>T rs1220435321 0.00001
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) rs963719602 0.00001
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) rs772730706 0.00001
NM_000152.5(GAA):c.1326+20G>A rs774138443 0.00001
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) rs2039191738 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) rs754686630 0.00001
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) rs528010457 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) rs767191385 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 0.00001
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) rs763612880 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755 0.00001
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362 0.00001
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446 0.00001
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) rs1470881018 0.00001
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp) rs111033815 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val) rs139075692 0.00001
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser) rs779083605 0.00001
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys) rs763375487 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_000207.3(INS):c.25C>T (p.Pro9Ser) rs372122432 0.00001
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln) rs777565396 0.00001
NM_000209.4(PDX1):c.98C>A (p.Pro33His) rs767363575 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) rs1323850779 0.00001
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790 0.00001
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln) rs1560035364 0.00001
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val) rs1397555319 0.00001
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg) rs1304151494 0.00001
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys) rs767673239 0.00001
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser) rs945722283 0.00001
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val) rs1277952619 0.00001
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln) rs373203939 0.00001
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp) rs33915717 0.00001
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=) rs200276021 0.00001
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp) rs1336341879 0.00001
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val) rs780283224 0.00001
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val) rs773345085 0.00001
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe) rs1362268812 0.00001
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys) rs373175144 0.00001
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val) rs149400972 0.00001
NM_000352.6(ABCC8):c.255G>A (p.Leu85=) rs1323334420 0.00001
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys) rs748585974 0.00001
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln) rs745591375 0.00001
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met) rs769818698 0.00001
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr) rs1320499455 0.00001
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe) rs1278920115 0.00001
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val) rs748831440 0.00001
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile) rs755577144 0.00001
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly) rs374703754 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 0.00001
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser) rs763212486 0.00001
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr) rs759270956 0.00001
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile) rs1199229728 0.00001
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg) rs1321074352 0.00001
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr) rs773283163 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678 0.00001
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His) rs745379486 0.00001
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu) rs114613745 0.00001
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile) rs371977895 0.00001
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met) rs587783668 0.00001
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His) rs1266231295 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp) rs370036738 0.00001
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly) rs781046464 0.00001
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr) rs1403526456 0.00001
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu) rs1391743259 0.00001
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn) rs577078110 0.00001
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser) rs200639058 0.00001
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser) rs759717253 0.00001
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala) rs984428675 0.00001
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr) rs200120574 0.00001
NM_000545.8(HNF1A):c.257T>A (p.Leu86His) rs200442958 0.00001
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
NM_000545.8(HNF1A):c.780G>A (p.Thr260=) rs749633685 0.00001
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr) rs765829022 0.00001
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu) rs747958319 0.00001
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822 0.00001
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721 0.00001
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843 0.00001
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser) rs773274876 0.00001
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902 0.00001
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112 0.00001
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356 0.00001
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys) rs749163043 0.00001
NM_000642.3(AGL):c.3836+4G>A rs1488570554 0.00001
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser) rs766592371 0.00001
NM_000642.3(AGL):c.4379G>A (p.Arg1460His) rs546855663 0.00001
NM_000642.3(AGL):c.996C>A (p.His332Gln) rs780811320 0.00001
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe) rs750630010 0.00001
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val) rs371331394 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser) rs1261477163 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) rs1555604000 0.00001
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn) rs371922891 0.00001
NM_001040716.2(PC):c.2024G>A (p.Arg675His) rs375528540 0.00001
NM_001041.4(SI):c.1057C>A (p.Leu353Ile) rs539049352 0.00001
NM_001041.4(SI):c.1217A>C (p.Asn406Thr) rs777261367 0.00001
NM_001041.4(SI):c.1526T>C (p.Val509Ala) rs551453053 0.00001
NM_001041.4(SI):c.2338A>G (p.Met780Val) rs770724135 0.00001
NM_001041.4(SI):c.2455G>A (p.Ala819Thr) rs542969966 0.00001
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile) rs1307836828 0.00001
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile) rs140725570 0.00001
NM_001041.4(SI):c.3423+3A>G rs766943944 0.00001
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys) rs966189337 0.00001
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala) rs753519683 0.00001
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr) rs796683088 0.00001
NM_001041.4(SI):c.580G>T (p.Val194Phe) rs371768147 0.00001
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr) rs1459705932 0.00001
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys) rs767963216 0.00001
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val) rs782753044 0.00001
NM_001164277.2(SLC37A4):c.149-3C>T rs782625122 0.00001
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) rs782292086 0.00001
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp) rs946341075 0.00001
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) rs863224210 0.00001
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met) rs754982680 0.00001
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly) rs781834348 0.00001
NM_001366110.1(PAX4):c.179G>A (p.Arg60His) rs370095957 0.00001
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001366110.1(PAX4):c.771+6C>T rs377152445 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376 0.00001
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser) rs142803179 0.00001
NM_001715.3(BLK):c.1252G>A (p.Val418Met) rs373565757 0.00001
NM_002294.3(LAMP2):c.*3276C>T rs1043524915 0.00001
NM_002294.3(LAMP2):c.556+13T>A rs1380200946 0.00001
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn) rs1271107737 0.00001
NM_002299.4(LCT):c.280G>A (p.Ala94Thr) rs139740186 0.00001
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp) rs774325551 0.00001
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys) rs763871039 0.00001
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val) rs369575066 0.00001
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala) rs767219230 0.00001
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe) rs766645933 0.00001
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) rs138888959 0.00001
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) rs779993355 0.00001
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) rs907643541 0.00001
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) rs775638719 0.00001
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960 0.00001
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys) rs141703130 0.00001
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val) rs556425857 0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_003597.5(KLF11):c.-31G>A rs886054721 0.00001
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu) rs775364750 0.00001
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr) rs868399686 0.00001
NM_003597.5(KLF11):c.259A>G (p.Met87Val) rs757905542 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His) rs201815571 0.00001
NM_006516.4(SLC2A1):c.679+5G>A rs771386274 0.00001
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg) rs375853334 0.00001
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys) rs758756757 0.00001
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337 0.00001
NM_016203.4(PRKAG2):c.187-3C>T rs972389122 0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432 0.00001
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) rs752256415 0.00001
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys) rs772441887 0.00001
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser) rs778696295 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_175914.5(HNF4A):c.-79C>T rs373143621 0.00001
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile) rs137853337 0.00001
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg) rs757897768 0.00001
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp) rs780813696 0.00001
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys) rs771156648 0.00001
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp) rs1032164393 0.00001
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp) rs1259110384 0.00001
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile) rs753285226 0.00001
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn) rs145902391 0.00001
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr) rs1235291781 0.00001
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp) rs758404955 0.00001
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe) rs773706712 0.00001
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) rs139442303
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln) rs371526091
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) rs1554400769
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln) rs80358195
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) rs756944737
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) rs201649392
NM_000152.5(GAA):c.*313C>G rs926145648
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) rs377233099
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) rs1473805095
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) rs1039935633
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) rs746401921
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) rs375681364
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) rs2039369551
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2332-16C>T rs2039383167
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) rs1126690
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) rs776111131
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.545C>T (p.Thr182Met) rs200524747
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.688G>C (p.Val230Leu) rs145866792
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.956-3C>T rs1421879461
NM_000155.4(GALT):c.203A>G (p.His68Arg) rs193922247
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000181.4(GUSB):c.380A>G (p.His127Arg) rs765699404
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.251A>G (p.His84Arg) rs2144755254
NM_000199.5(SGSH):c.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr) rs775854644
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) rs1341421909
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg) rs2078257877
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile) rs2147981456
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His) rs199573966
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala) rs200684333
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del) rs1555965813
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg) rs763028380
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu) rs1955814875
NM_000352.6(ABCC8):c.2222+15C>A rs377174421
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro) rs761960758
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly) rs761160857
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr) rs568576108
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro) rs201499958
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly) rs770028071
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser) rs763104338
NM_000352.6(ABCC8):c.3988+19G>C rs576340695
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe) rs138642224
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser) rs751228166
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr) rs760079000
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp) rs748416956
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.4(KCNJ11):c.-150G>A rs886048043
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys) rs543286136
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile) rs761575495
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser) rs550315112
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser) rs765829022
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr) rs151256267
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala) rs151256267
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu) rs193922606
NM_000642.3(AGL):c.-69+1G>C rs1413359590
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly) rs1216156102
NM_000642.3(AGL):c.1054A>G (p.Ile352Val) rs1651360894
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu) rs928357712
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly) rs1045745115
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln) rs758882822
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu) rs2100760670
NM_000642.3(AGL):c.2896A>T (p.Met966Leu) rs772843306
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly) rs757161555
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986
NM_000642.3(AGL):c.895T>G (p.Trp299Gly) rs773101055
NM_000642.3(AGL):c.922A>G (p.Lys308Glu) rs2101113540
NM_000642.3(AGL):c.974C>G (p.Thr325Ser) rs2101126080
NM_000891.3(KCNJ2):c.*2270G>T rs545863243
NM_000891.3(KCNJ2):c.*2663T>C rs886053338
NM_000891.3(KCNJ2):c.*2775dup rs35656864
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg) rs2144376499
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala) rs201162707
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del) rs1446666305
NM_001041.4(SI):c.1567A>C (p.Asn523His) rs780055379
NM_001041.4(SI):c.3064G>A (p.Val1022Met) rs201018248
NM_001041.4(SI):c.371T>C (p.Ile124Thr) rs889224862
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg) rs1559990351
NM_001041.4(SI):c.4842-3G>A rs112107483
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly) rs150702232
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp) rs760505676
NM_001041.4(SI):c.5279G>T (p.Gly1760Val) rs145556619
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr) rs1565686175
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) rs782552989
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) rs781846380
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) rs1483724786
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) rs571267951
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg) rs571267951
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val) rs782083266
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His) rs370839177
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) rs538938823
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg) rs1176277831
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) rs539911116
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr) rs1943553852
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly) rs767190021
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala) rs1553654038
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) rs760333260
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer) rs2119070291
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
NM_002103.5(GYS1):c.324C>G (p.Ile108Met) rs5455
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser) rs1288096114
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val) rs774325551
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu) rs1013787986
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln) rs553756272
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del) rs1190828671
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg) rs758515206
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His) rs1559135426
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn) rs201174472
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp) rs201174472
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser) rs1029071008
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys) rs773755753
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu) rs2082529261
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) rs146552221
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser) rs1064797191
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val) rs964899969
NM_005566.4(LDHA):c.470G>A (p.Arg157His) rs368815124
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn) rs1365012948
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu) rs375174733
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp) rs1832796232
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val) rs543247293
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile) rs397517282
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs) rs762131179
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del) rs750736378
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys) rs1803172725
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_175914.5(HNF4A):c.*145T>A rs200905283
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val) rs368759794
NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs) rs1564568302

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