ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (302):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 682
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_001360016.2(G6PD):c.*357= rs1050757 0.36655
G6PD:c.1455-13T>C rs2071429 0.36538
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000152.5(GAA):c.-260G>C rs2304849 0.16933
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_000046.3(ARSB):c.-564A>G rs59558132 0.16591
NM_000046.3(ARSB):c.-958A>G rs57586329 0.15967
NM_001042351.2(G6PD):c.-111A>G rs111827785 0.14433
NM_000046.3(ARSB):c.-906C>G rs62377914 0.14171
NM_003619.4(PRSS12):c.*1504G>A rs1045817 0.11039
NM_000152.5(GAA):c.*139dup rs865903736 0.10981
NM_000147.4(FUCA1):c.-86T>G rs2070953 0.10497
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001366110.1(PAX4):c.*402T>C rs327519 0.07655
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000046.3(ARSB):c.*3195A>G rs16875887 0.07068
NM_000485.2(APRT):c.-50C>A rs8191469 0.06915
NM_003619.4(PRSS12):c.*807G>A rs17516164 0.06563
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_000925.3(PDHB):c.*407_*408delAA rs35161513 0.06029
NM_000485.3(APRT):c.*3A>G rs2070256 0.05786
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754 0.05209
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_002076.4(GNS):c.*3068_*3069dup rs397946778 0.04705
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_001159287.1(TPI1):c.66G>A (p.Pro22=) rs1800201 0.03488
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=) rs2230036 0.03373
NM_001366110.1(PAX4):c.*492G>A rs405576 0.03297
NM_001323543.1(GALNS):c.-523T>C rs116702472 0.03132
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_000152.5(GAA):c.-178G>A rs77514632 0.02487
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_000152.5(GAA):c.-338C>G rs144639114 0.02435
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=) rs77214077 0.02424
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_017950.4(CCDC40):c.*654A>C rs2289538 0.02366
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02153
NM_000030.2(AGXT):c.-46G>A rs73106672 0.02150
NM_001041.4(SI):c.4841+9A>G rs114438312 0.01984
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473 0.01977
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_006755.1(TALDO1):c.*192G>A rs7933290 0.01926
NM_000485.3(APRT):c.*47T>C rs8191497 0.01906
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993 0.01823
NM_017950.4(CCDC40):c.*265C>T rs74000393 0.01774
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) rs78558135 0.01732
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_001041.4(SI):c.483+4C>T rs13086543 0.01717
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_000262.3(NAGA):c.*1930G>A rs144373253 0.01599
NM_003619.4(PRSS12):c.*208C>T rs142775631 0.01464
NM_080749.4(NEURL2):c.-112C>T rs117529875 0.01440
NM_000308.3(CTSA):c.-43G>T rs116893852 0.01437
NM_000512.5(GALNS):c.*224C>G rs111233947 0.01437
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447 0.01369
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_000151.4(G6PC1):c.*745G>T rs116897758 0.01352
NM_152419.3(HGSNAT):c.*817C>T rs78952714 0.01352
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) rs16883930 0.01342
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324 0.01219
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_001352514.2(HLCS):c.*1744G>A rs117270429 0.01206
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01125
NM_001366110.1(PAX4):c.*33A>C rs150578361 0.01119
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_005566.4(LDHA):c.*582C>T rs144317385 0.01099
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_002299.4(LCT):c.*429A>C rs77631953 0.01053
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472 0.01050
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_002076.4(GNS):c.*599T>A rs151304792 0.01029
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_001715.2(BLK):c.-448T>C rs148891021 0.00986
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000293.3(PHKB):c.*641C>A rs117861728 0.00962
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_003477.3(PDHX):c.*114A>G rs76663700 0.00931
NM_000151.4(G6PC1):c.-77G>A rs145752565 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) rs34103538 0.00913
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_152419.3(HGSNAT):c.*3213T>A rs141634395 0.00899
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_002076.4(GNS):c.*2751C>T rs137943279 0.00886
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_012203.2(GRHPR):c.493+9C>T rs41303225 0.00873
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_080749.4(NEURL2):c.-163T>G rs184484066 0.00832
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met) rs61740509 0.00831
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_001352514.2(HLCS):c.*2624G>A rs73210780 0.00769
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000343.4(SLC5A1):c.*1203A>G rs149444431 0.00762
NM_000158.4(GBE1):c.*308C>T rs141214861 0.00757
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837 0.00726
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_003619.4(PRSS12):c.1773C>T (p.His591=) rs34131974 0.00712
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000213.5(ITGB4):c.*4C>T rs189610725 0.00703
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000528.4(MAN2B1):c.*42G>A rs149101136 0.00673
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_001715.2(BLK):c.-530G>A rs115316286 0.00661
NM_000404.4(GLB1):c.*376C>G rs147437116 0.00659
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_000485.3(APRT):c.*182A>G rs8191498 0.00599
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_000155.4(GALT):c.*148T>C rs115985083 0.00597
NM_012434.5(SLC17A5):c.*560G>A rs115453489 0.00594
NM_152419.3(HGSNAT):c.*2258A>G rs78930544 0.00584
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182 0.00560
NM_000155.4(GALT):c.*147A>G rs73501024 0.00548
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_001352514.2(HLCS):c.331-7157C>T rs149104163 0.00524
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_000404.4(GLB1):c.*184G>A rs143430374 0.00483
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_152419.3(HGSNAT):c.*2767C>T rs74762381 0.00479
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_001008216.2(GALE):c.-77+241C>G rs566996145 0.00470
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_002103.5(GYS1):c.*256G>A rs148077948 0.00465
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00455
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_003619.4(PRSS12):c.51A>G (p.Glu17=) rs144853134 0.00447
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_002500.5(NEUROD1):c.-60G>A rs189844846 0.00441
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_000308.4(CTSA):c.*51C>G rs375835315 0.00438
NM_012434.5(SLC17A5):c.820-3C>T rs12201641 0.00436
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_002500.5(NEUROD1):c.*719G>A rs184299700 0.00423
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_000293.3(PHKB):c.*915G>A rs151262633 0.00411
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_001715.2(BLK):c.-441C>A rs142686759 0.00409
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_001366110.1(PAX4):c.*287C>T rs12669223 0.00402
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_001352514.2(HLCS):c.*1725A>G rs73398120 0.00399
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_001352514.2(HLCS):c.*3247A>G rs114061673 0.00386
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe) rs143691289 0.00371
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_000154.2(GALK1):c.*32C>T rs116845474 0.00367
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
NM_000293.3(PHKB):c.*989A>T rs530003571 0.00366
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362 0.00352
NM_198586.3(NHLRC1):c.*320G>A rs79197160 0.00352
NM_000512.5(GALNS):c.-32C>T rs556283159 0.00350
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00337
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000151.4(G6PC1):c.*2975A>T rs145828729 0.00335
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_012434.5(SLC17A5):c.*588G>A rs533473425 0.00317
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_002500.5(NEUROD1):c.*78C>T rs41270211 0.00315
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_152419.3(HGSNAT):c.*2740C>T rs114940430 0.00314
NM_001715.2(BLK):c.-304C>G rs151046937 0.00312
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_000154.2(GALK1):c.1107+5G>A rs201663491 0.00297
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_198586.3(NHLRC1):c.*875T>C rs72839174 0.00296
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_001008216.2(GALE):c.772C>T (p.Leu258=) rs147618796 0.00283
NM_002591.4(PCK1):c.864C>T (p.Cys288=) rs61760966 0.00283
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774 0.00282
NM_002299.4(LCT):c.1617C>T (p.Thr539=) rs35476200 0.00281
NM_002591.4(PCK1):c.179T>C (p.Met60Thr) rs28383586 0.00278
NM_006488.3(KHK):c.*27A>G rs189674797 0.00278
NM_000343.4(SLC5A1):c.*1476A>G rs190638859 0.00277
NM_006721.4(ADK):c.*740C>T rs150465356 0.00276
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_001352514.2(HLCS):c.*19C>T rs137949852 0.00259
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_006721.4(ADK):c.66-24106T>C rs192064997 0.00255
NM_001164277.2(SLC37A4):c.-42G>C rs186567090 0.00253
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_144563.3(RPIA):c.*241A>G rs151226092 0.00250
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_001008216.2(GALE):c.912G>A (p.Val304=) rs143694860 0.00244
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00243
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615 0.00237
NM_022895.3(C12orf43):c.*2053C>T rs140584786 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000293.3(PHKB):c.*590A>G rs143720939 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888 0.00230
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_006488.3(KHK):c.527G>A (p.Arg176Gln) rs143669793 0.00227
NM_000151.4(G6PC1):c.*2418G>C rs115371692 0.00224
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_003041.4(SLC5A2):c.*33C>G rs199886583 0.00220
NM_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu) rs72903215 0.00212
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_002591.4(PCK1):c.843G>A (p.Ala281=) rs28359546 0.00208
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_006721.4(ADK):c.*375A>G rs185021662 0.00206
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001366110.1(PAX4):c.14-188del rs533462973 0.00204
NM_001008216.2(GALE):c.879G>A (p.Pro293=) rs142332521 0.00203
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser) rs149533049 0.00192
NM_002299.4(LCT):c.4866+12C>T rs191207394 0.00190
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_000434.4(NEU1):c.*445T>G rs113824527 0.00175
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_003041.4(SLC5A2):c.*48G>A rs184367787 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001 0.00173
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
NM_000262.3(NAGA):c.*555C>T rs141688392 0.00168
NM_012434.5(SLC17A5):c.*1492C>G rs148144074 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_017755.6(NSUN2):c.*17G>A rs201903423 0.00160
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_000035.4(ALDOB):c.*152A>G rs192418526 0.00156
NM_002299.4(LCT):c.3597G>A (p.Ala1199=) rs79326512 0.00148
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_000262.3(NAGA):c.*1311T>C rs185586436 0.00142
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_001008216.2(GALE):c.873+13G>C rs760941 0.00124
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_002591.4(PCK1):c.*408T>G rs139159526 0.00121
NM_021957.4(GYS2):c.-219T>G rs184607089 0.00121
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_002299.4(LCT):c.*235C>T rs116002539 0.00111
NM_006488.3(KHK):c.189G>A (p.Met63Ile) rs142663158 0.00108
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_002500.4(NEUROD1):c.*1555C>T rs192155087 0.00099
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_000035.4(ALDOB):c.*752C>G rs555999328 0.00098
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_006488.3(KHK):c.885T>C (p.Asp295=) rs144476131 0.00095
NM_003597.5(KLF11):c.486A>G (p.Pro162=) rs146462049 0.00093
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_000151.4(G6PC1):c.*3G>A rs191399793 0.00088
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_153281.2(HYAL1):c.-241C>A rs12631938 0.00087
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910 0.00081
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_198586.3(NHLRC1):c.*720T>C rs141863990 0.00071
NM_000046.5(ARSB):c.*2243A>G rs145585943 0.00069
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_012434.5(SLC17A5):c.*799T>C rs529408804 0.00067
NM_001008216.2(GALE):c.*195T>C rs78587342 0.00066
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_000352.5(ABCC8):c.*118A>G rs142441893 0.00061
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_001715.3(BLK):c.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_000642.3(AGL):c.3084-8T>C rs186402161 0.00056
NM_006488.3(KHK):c.*623G>A rs192172107 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_012434.5(SLC17A5):c.*1630G>T rs141885984 0.00053
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_000340.2(SLC2A2):c.*486T>C rs566222124 0.00047
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_001041.4(SI):c.4268-14T>C rs201151548 0.00041
NM_003619.4(PRSS12):c.*764A>G rs11098431 0.00041
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_000262.3(NAGA):c.-394A>G rs377708906 0.00039
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000642.3(AGL):c.*1581G>C rs76338815 0.00037
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449 0.00036
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562 0.00035
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=) rs115027760 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) rs115207271 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=) rs142046439 0.00027
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=) rs185126699 0.00026
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000035.4(ALDOB):c.*849T>C rs181650438 0.00024
NM_001352514.2(HLCS):c.*1324T>C rs141644229 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_152419.3(HGSNAT):c.*106G>A rs186881132 0.00024
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_003619.4(PRSS12):c.*1865T>C rs183712097 0.00023
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00023
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479 0.00022
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg) rs142266428 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171 0.00018
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_000925.4(PDHB):c.*201T>C rs375277648 0.00017
NM_003597.5(KLF11):c.*982G>A rs550807244 0.00017
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000343.4(SLC5A1):c.*1237A>G rs368732312 0.00016
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 0.00016
NM_021957.4(GYS2):c.1063-15C>G rs150691568 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NM_000458.3(HNF1B):c.-232C>T rs142612536 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) rs782437467 0.00014
NM_021957.4(GYS2):c.1767T>C (p.Thr589=) rs147417298 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187 0.00013
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947 0.00013
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_000035.4(ALDOB):c.*567C>T rs540272117 0.00012
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_003597.5(KLF11):c.*2274G>A rs149368043 0.00012
NM_000308.4(CTSA):c.1036G>A (p.Val346Met) rs137941635 0.00011
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974 0.00011
NM_022895.3(C12orf43):c.*2694A>G rs571084139 0.00011
NM_000343.4(SLC5A1):c.*1455C>A rs559383534 0.00010
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_000030.3(AGXT):c.942+12C>G rs202001799 0.00009
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_000507.4(FBP1):c.826-9G>C rs200948424 0.00008
NM_003597.5(KLF11):c.1161C>T (p.Asp387=) rs117449189 0.00008
NM_021957.4(GYS2):c.615C>T (p.His205=) rs569279347 0.00008
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375 0.00007
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His) rs782528091 0.00007
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000340.2(SLC2A2):c.*1260A>G rs573454591 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His) rs782453258 0.00006
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063 0.00006
NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile) rs370236540 0.00006
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp) rs200561467 0.00006
NM_015957.4(APIP):c.-30T>C rs567329509 0.00006
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met) rs140646346 0.00006
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_001014436.3(DBNL):c.*2017A>G rs367994618 0.00005
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_001160372.4(TRAPPC9):c.2811-4G>A rs374826041 0.00004
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774 0.00004
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala) rs748082803 0.00004
NM_021957.4(GYS2):c.1128C>T (p.Asn376=) rs139043251 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_000207.3(INS):c.130G>A (p.Gly44Arg) rs765512575 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000458.4(HNF1B):c.*88A>G rs762266343 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00003
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000343.3(SLC5A1):c.-36G>A rs200961861 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000545.8(HNF1A):c.264G>A (p.Glu88=) rs201223431 0.00002
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_002300.8(LDHB):c.472C>T (p.Arg158Cys) rs532712842 0.00002
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=) rs782102345 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_006516.2(SLC2A1):c.-242C>T rs561646847 0.00002
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000284.4(PDHA1):c.*1926G>C rs778062708 0.00001
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000343.4(SLC5A1):c.373-13G>A rs201398293 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000434.3(NEU1):c.-76C>G rs566696697 0.00001
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_001039770.3(TMPPE):c.-523G>C rs529551028 0.00001
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln) rs782702439 0.00001
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=) rs557690622 0.00001
NM_003619.4(PRSS12):c.-10C>T rs559605488 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_006516.4(SLC2A1):c.680-10G>T rs587784394 0.00001
NM_006721.4(ADK):c.66-24289G>A rs571962706 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
NM_000030.3(AGXT):c.-24C>G rs192950967
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.4(ARSB):c.-410_-407delCTAA rs151289643
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000152.5(GAA):c.-75C>G rs80020206
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000207.3(INS):c.153A>G (p.Thr51=) rs773789432
NM_000207.3(INS):c.72C>A (p.Ala24=) rs539284976
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000343.4(SLC5A1):c.*423dup rs140860103
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000507.4(FBP1):c.*248del rs11351544
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001041.4(SI):c.*314del rs145227457
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-9dup rs747324303
NM_001352514.2(HLCS):c.*1589CAAA[2] rs201997019
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001360016.2(G6PD):c.1311= (p.Tyr437=) rs2230037
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_002076.4(GNS):c.*2611dup rs201933913
NM_002103.4(GYS1):c.-253delG rs370753423
NM_002294.3(LAMP2):c.*1701dup rs373005118
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*3031dup rs113549733
NM_002294.3(LAMP2):c.*3459GTT[3] rs199705754
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_002300.8(LDHB):c.130-3_130-2del rs200371155
NM_002591.4(PCK1):c.*349AT[4] rs201179319
NM_002591.4(PCK1):c.*51G>C rs6025630
NM_003051.3(SLC16A1):c.-249C>G rs60953496
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.3(PDHX):c.*904G>T rs182283782
NM_003597.5(KLF11):c.*122C>T rs576978858
NM_003597.5(KLF11):c.*227dup rs34206941
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005566.3(LDHA):c.-152dup rs371317664
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_006488.3(KHK):c.*20AC[2] rs370253620
NM_006755.1(TALDO1):c.-30_-19del rs71464113
NM_015957.4(APIP):c.57+91G>T rs561463212
NM_016203.4(PRKAG2):c.*1021del rs11329945
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323
NM_021957.4(GYS2):c.*437dup rs60154469
NM_022895.3(C12orf43):c.*2372G>A rs55962050
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.86-3del rs151153333
NM_138413.4(HOGA1):c.*415T>A rs148648470
NM_138413.4(HOGA1):c.701-11_701-8dup rs143018385
NM_144563.3(RPIA):c.*599GTT[1] rs371885783
NM_152419.3(HGSNAT):c.*2802C>G rs187372766
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.*2256C>G rs537829031
NM_175914.5(HNF4A):c.*3142del rs141563916
NM_175914.5(HNF4A):c.*657G>A rs3212209
NM_175914.5(HNF4A):c.*76G>T rs11574743
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.