Variant_ID Trait Gene Cohort Codon_change Variant_consequence ClinVar_classification Effect_size Minor_allele_count gnomAD_minor_allele_frequency Variant_identifier 1:55043896:C:A LDL-C PCSK9 UKBB c.261C>A (p.His87Gln) missense_variant Uncertain Significance 20.45 [30.46] mg/dL 1 NA NA 1:55043925:G:A LDL-C PCSK9 FOURIER c.290G>A (p.Arg97His) missense_variant Conflicting 41.95 [19.37] mg/dL 2 1.39E-04 rs376385276 1:55043933:G:A LDL-C PCSK9 UKBB c.298G>A (p.Ala100Thr) missense_variant Uncertain Significance 27.09 [21.54] mg/dL 2 2.79E-05 rs564681731 1:55046617:G:T LDL-C PCSK9 UKBB c.494G>T (p.Arg165Leu) missense_variant Uncertain Significance 50.53 [30.46] mg/dL 1 1.99E-05 rs372165281 1:55052411:G:A LDL-C PCSK9 UKBB c.657G>A (p.Gln219=) synonymous_variant Uncertain Significance 22.12 [30.46] mg/dL 1 NA rs1431852989 1:55052650:G:A LDL-C PCSK9 UKBB c.658G>A (p.Ala220Thr) missense_variant Uncertain Significance 45.51 [21.54] mg/dL 2 1.20E-05 rs768795323 1:55052771:C:T LDL-C PCSK9 UKBB c.779C>T (p.Thr260Met) missense_variant Uncertain Significance 18.64 [21.54] mg/dL 2 1.61E-05 rs777111934 1:55056154:G:A LDL-C PCSK9 UKBB c.961G>A (p.Asp321Asn) missense_variant Uncertain Significance 24.2 [30.46] mg/dL 1 NA rs780509319 1:55057433:G:C LDL-C PCSK9 UKBB c.1099G>C (p.Asp367His) missense_variant Conflicting 38.44 [12.44] mg/dL 6 2.31E-04 rs141867978 1:55058131:G:A LDL-C PCSK9 UKBB c.1276G>A (p.Glu426Lys) missense_variant Uncertain Significance 23.06 [21.54] mg/dL 2 NA rs1207777134 1:55058158:G:T LDL-C PCSK9 UKBB c.1303G>T (p.Val435Leu) missense_variant Uncertain Significance 19.22 [11.51] mg/dL 7 1.99E-05 rs780948835 1:55058630:C:T LDL-C PCSK9 UKBB c.1486C>T (p.Arg496Trp) missense_variant Conflicting 33.19 [6.99] mg/dL 19 4.44E-05 rs374603772 1:55058647:G:A LDL-C PCSK9 UKBB c.1503G>A (p.Glu501=) synonymous_variant Uncertain Significance 22.78 [30.46] mg/dL 1 4.17E-06 rs986151799 1:55059522:G:A LDL-C PCSK9 UKBB c.1540G>A (p.Ala514Thr) missense_variant Uncertain Significance 53.49 [30.46] mg/dL 1 5.75E-06 rs1447116791 1:55059529:G:T LDL-C PCSK9 UKBB c.1547G>T (p.Gly516Val) missense_variant Uncertain Significance 98.27 [23.69] mg/dL 2 NA rs891322948 1:55059603:C:T LDL-C PCSK9 UKBB c.1621C>T (p.Pro541Ser) missense_variant Uncertain Significance 96.55 [30.46] mg/dL 1 6.33E-06 rs369996097 1:55061426:T:A LDL-C PCSK9 UKBB c.1733T>A (p.Val578Glu) missense_variant Uncertain Significance 20.98 [21.56] mg/dL 2 3.30E-05 rs765583923 1:55061428:C:A LDL-C PCSK9 UKBB c.1735C>A (p.Leu579Met) missense_variant Uncertain Significance 53.09 [30.47] mg/dL 1 4.13E-06 rs751217094 1:55061449:A:G LDL-C PCSK9 UKBB c.1756A>G (p.Asn586Asp) missense_variant Uncertain Significance 23.41 [15.89] mg/dL 4 4.18E-06 rs146035580 1:55061458:G:A LDL-C PCSK9 FOURIER c.1765G>A (p.Val589Met) missense_variant Uncertain Significance 29.93 [27.22] mg/dL 1 NA rs372586224 11:2445453:G:C QTc KCNQ1 UKBB c.355G>C (p.Gly119Arg) missense_variant Conflicting 46.52 [23.07] ms 1 NA rs1325525794 11:2527978:A:G QTc KCNQ1 TOPMed c.437A>G (p.Glu146Gly) missense_variant Conflicting 19.85 [15.8] ms 2 3.98E-06 rs914460959 11:2570634:G:A QTc KCNQ1 UKBB c.484G>A (p.Val162Met) missense_variant Uncertain Significance 21.34 [23.08] ms 1 1.60E-05 rs199472692 11:2570664:G:A QTc KCNQ1 TOPMed c.133G>A (p.Val45Met) missense_variant Conflicting 24.15 [21.77] ms 1 5.21E-05 rs199472694 11:2570685:G:A QTc KCNQ1 TOPMed c.535G>A (p.Gly179Ser) missense_variant Conflicting 30.04 [22.27] ms 1 NA rs199473394 11:2571391:C:T QTc KCNQ1 TOPMed c.290C>T (p.Thr97Met) missense_variant Conflicting 22.82 [4.75] ms 23 4.02E-06 rs199472706 11:2572050:G:A QTc KCNQ1 UKBB c.340G>A (p.Val114Ile) missense_variant Uncertain Significance 13.61 [23.07] ms 1 1.20E-05 rs199956744 11:2572942:C:T QTc KCNQ1 UKBB c.496C>T (p.Arg166Cys) missense_variant Conflicting 20 [11.53] ms 4 3.60E-05 rs199472737 11:2572943:G:A QTc KCNQ1 UKBB c.497G>A (p.Arg166His) missense_variant Conflicting 19.98 [23.08] ms 1 1.60E-05 rs199473465 11:2572963:G:A QTc KCNQ1 UKBB c.517G>A (p.Ala173Thr) missense_variant Conflicting 33.63 [16.43] ms 2 4.80E-05 rs120074187 11:2572963:G:A QTc KCNQ1 TOPMed c.517G>A (p.Ala173Thr) missense_variant Conflicting 20.18 [15.53] ms 2 4.80E-05 rs120074187 11:2572965:A:C QTc KCNQ1 UKBB c.900A>C (p.Ala300=) synonymous_variant Conflicting 16.44 [9.42] ms 6 0.000104 rs727504769 11:2572965:A:C QTc KCNQ1 TOPMed c.900A>C (p.Ala300=) synonymous_variant Conflicting 22.26 [12.99] ms 3 0.000104 rs727504769 11:2587603:G:A QTc KCNQ1 UKBB c.1162G>A (p.Asp388Asn) missense_variant Uncertain Significance 44.11 [23.06] ms 1 7.96E-06 rs537637760 11:2587618:A:G QTc KCNQ1 UKBB c.1177A>G (p.Lys393Glu) missense_variant Uncertain Significance 20.45 [23.06] ms 1 NA NA 11:2587630:C:T QTc KCNQ1 TOPMed c.808C>T (p.Arg270Trp) missense_variant Conflicting 12.32 [7.41] ms 9 1.99E-04 rs199472776 11:2587679:A:G QTc KCNQ1 TOPMed c.1238A>G (p.Lys413Arg) missense_variant Uncertain Significance 12.68 [9.78] ms 5 7.96E-06 rs1351149628 11:2587679:A:G QTc KCNQ1 UKBB c.1238A>G (p.Lys413Arg) missense_variant Uncertain Significance 16.52 [23.07] ms 1 7.96E-06 rs1351149628 11:2587687:G:A QTc KCNQ1 UKBB c.1246G>A (p.Val416Met) missense_variant Uncertain Significance 12.63 [23.06] ms 1 1.19E-05 rs777546418 11:2588804:C:A QTc KCNQ1 UKBB c.962C>A (p.Pro321Gln) missense_variant Uncertain Significance 14.02 [16.32] ms 2 7.19E-05 rs12720449 11:2588815:C:T QTc KCNQ1 TOPMed c.973C>T (p.Arg325Trp) missense_variant Conflicting 21.21 [6.24] ms 13 8.01E-05 rs140452381 11:2588815:C:T QTc KCNQ1 UKBB c.973C>T (p.Arg325Trp) missense_variant Conflicting 15.2 [23.07] ms 1 8.01E-05 rs140452381 11:2588836:G:A QTc KCNQ1 TOPMed c.994G>A (p.Asp332Asn) missense_variant Conflicting 14.66 [12.72] ms 3 3.61E-05 rs747704276 11:2588840:G:A QTc KCNQ1 TOPMed c.1379G>A (p.Gly460Asp) missense_variant Uncertain Significance 19.29 [21.7] ms 1 1.20E-05 rs770410327 11:2588849:G:C QTc KCNQ1 UKBB c.1007G>C (p.Ser336Thr) missense_variant Uncertain Significance 25.39 [23.09] ms 1 3.62E-05 rs184636161 11:2662065:A:G QTc KCNQ1 UKBB c.1498A>G (p.Ile500Val) missense_variant Uncertain Significance 15.24 [23.07] ms 1 3.98E-06 rs189794855 11:2768849:G:A QTc KCNQ1 TOPMed c.1139G>A (p.Arg380Gln) missense_variant Uncertain Significance 28.15 [15.79] ms 2 4.77E-05 rs369571296 11:2768861:G:A QTc KCNQ1 UKBB c.1151G>A (p.Arg384Gln) missense_variant Uncertain Significance 26.3 [23.06] ms 1 7.96E-06 rs753962384 11:2768881:C:T QTc KCNQ1 UKBB c.1552C>T (p.Arg518Ter) stop_gained Conflicting 45.45 [6.96] ms 11 1.03E-04 rs17215500 11:2768881:C:T QTc KCNQ1 TOPMed c.1552C>T (p.Arg518Ter) stop_gained Conflicting 66.53 [22.29] ms 1 1.03E-04 rs17215500 11:2768905:A:G QTc KCNQ1 TOPMed c.1195A>G (p.Lys399Glu) missense_variant Uncertain Significance 91.16 [21.78] ms 1 7.96E-06 rs199472792 11:2777026:G:A QTc KCNQ1 TOPMed c.1726G>A (p.Val576Ile) missense_variant Conflicting 14.57 [15.45] ms 2 6.37E-05 rs750409379 12:120989027:C:T HbA1c HNF1A UKBB c.521C>T (p.Ala174Val) missense_variant Uncertain Significance 0.34 [0.18] (%) 7 2.00E-04 rs201934320 12:120994373:C:T HbA1c HNF1A UKBB c.923C>T (p.Pro308Leu) missense_variant Uncertain Significance 0.31 [0.49] (%) 1 2.81E-05 rs754306821 17:37710624:G:A HbA1c HNF1B FOURIER c.1085C>T (p.Ser362Phe) missense_variant Uncertain Significance 2.71 [0.89] (%) 1 NA rs1024639436 17:37731615:G:A HbA1c HNF1B FOURIER c.1025C>T (p.Ser342Phe) missense_variant Conflicting 0.48 [0.63] (%) 2 3.22E-05 rs780035561 17:37731712:G:A HbA1c HNF1B UKBB c.928C>T (p.Arg310Trp) missense_variant Uncertain Significance 0.34 [0.49] (%) 1 NA rs988279557 17:37733616:G:A HbA1c HNF1B FOURIER c.750C>T (p.Tyr250=) synonymous_variant Conflicting 0.64 [0.89] (%) 1 9.15E-05 rs144249535 19:11100236:C:G LDL-C LDLR FOURIER c.81C>G (p.Cys27Trp) missense_variant Conflicting 16.99 [8.27] mg/dL 9 1.60E-05 rs2228671 19:11100236:C:G LDL-C LDLR UKBB c.81C>G (p.Cys27Trp) missense_variant Conflicting 53.69 [21.54] mg/dL 2 1.60E-05 rs2228671 19:11100237:G:A LDL-C LDLR UKBB c.82G>A (p.Glu28Lys) missense_variant Conflicting 37.68 [30.46] mg/dL 1 3.15E-04 rs551747280 19:11100246:G:A LDL-C LDLR UKBB c.91G>A (p.Glu31Lys) missense_variant Conflicting 20.25 [10.15] mg/dL 9 2.39E-05 rs776421777 19:11100294:G:A LDL-C LDLR UKBB c.139G>A (p.Asp47Asn) missense_variant Conflicting 21.2 [12.37] mg/dL 6 1.59E-05 rs778284147 19:11100303:G:A LDL-C LDLR FOURIER c.148G>A (p.Ala50Thr) missense_variant Conflicting 17.46 [12.25] mg/dL 5 6.77E-05 rs137853960 19:11100308:G:C LDL-C LDLR UKBB c.153G>C (p.Glu51Asp) missense_variant Uncertain Significance 22.73 [15.23] mg/dL 4 3.98E-06 rs772188884 19:11102684:G:A LDL-C LDLR UKBB c.211G>A (p.Gly71Arg) missense_variant Conflicting 19.08 [17.59] mg/dL 3 2.39E-05 rs766903209 19:11102699:G:T LDL-C LDLR UKBB c.226G>T (p.Gly76Trp) missense_variant Conflicting 37.84 [17.59] mg/dL 3 NA rs574337291 19:11102714:C:T LDL-C LDLR UKBB c.241C>T (p.Arg81Cys) missense_variant Conflicting 63.66 [17.84] mg/dL 3 7.95E-06 rs730882078 19:11102741:G:A LDL-C LDLR UKBB c.268G>A (p.Asp90Asn) missense_variant Conflicting 21.5 [12.43] mg/dL 6 5.57E-05 rs749038326 19:11102786:C:T LDL-C LDLR UKBB c.313C>T (p.Pro105Ser) missense_variant Conflicting 17.07 [21.54] mg/dL 2 7.95E-05 rs13306510 19:11102787:G:A LDL-C LDLR UKBB c.313+1G>A splice_donor_variant Conflicting 74.78 [13.62] mg/dL 5 2.78E-05 rs112029328 19:11102787:G:A LDL-C LDLR FOURIER c.313+1G>A splice_donor_variant Conflicting 115.08 [19.28] mg/dL 2 2.78E-05 rs112029328 19:11102788:T:C LDL-C LDLR FOURIER c.313+2T>C splice_donor_variant Conflicting 22.38 [19.2] mg/dL 2 NA rs793888517 19:11105243:G:A LDL-C LDLR UKBB c.337G>A (p.Glu113Lys) missense_variant Conflicting 30.63 [8.44] mg/dL 13 2.79E-05 rs769383881 19:11105243:G:A LDL-C LDLR FOURIER c.337G>A (p.Glu113Lys) missense_variant Conflicting 17.56 [19.11] mg/dL 2 2.79E-05 rs769383881 19:11105249:C:T LDL-C LDLR UKBB c.343C>T (p.Arg115Cys) missense_variant Conflicting 19.7 [21.54] mg/dL 2 2.79E-05 rs774723292 19:11105357:G:C LDL-C LDLR FOURIER c.451G>C (p.Ala151Pro) missense_variant Uncertain Significance 33.34 [27.3] mg/dL 1 1.19E-05 rs763233960 19:11105470:C:T LDL-C LDLR FOURIER c.564C>T (p.Tyr188=) synonymous_variant Conflicting 27.02 [27.46] mg/dL 1 8.75E-05 rs121908034 19:11105538:A:T LDL-C LDLR FOURIER c.632A>T (p.His211Leu) missense_variant Conflicting 44.53 [27.39] mg/dL 1 NA rs879254603 19:11106588:G:A LDL-C LDLR UKBB c.718G>A (p.Glu240Lys) missense_variant Conflicting 31.21 [6.49] mg/dL 22 2.78E-05 rs768563000 19:11106601:C:G LDL-C LDLR UKBB c.731C>G (p.Ser244Cys) missense_variant Uncertain Significance 68.28 [21.54] mg/dL 2 NA rs1208667598 19:11106668:T:A LDL-C LDLR FOURIER c.798T>A (p.Asp266Glu) missense_variant Conflicting 23.41 [7.07] mg/dL 15 3.18E-05 rs139043155 19:11107432:C:A LDL-C LDLR UKBB c.858C>A (p.Ser286Arg) missense_variant Conflicting 92.05 [21.51] mg/dL 2 2.78E-05 rs140241383 19:11107432:C:A LDL-C LDLR FOURIER c.858C>A (p.Ser286Arg) missense_variant Conflicting 83.53 [27.39] mg/dL 1 2.78E-05 rs140241383 19:11107436:G:A LDL-C LDLR UKBB c.862G>A (p.Glu288Lys) missense_variant Conflicting 36.14 [15.23] mg/dL 4 3.98E-05 rs368657165 19:11107445:A:C LDL-C LDLR UKBB c.871A>C (p.Thr291Pro) missense_variant Uncertain Significance 32.67 [30.46] mg/dL 1 3.98E-06 rs766754788 19:11107472:A:G LDL-C LDLR UKBB c.898A>G (p.Arg300Gly) missense_variant Conflicting 69.27 [21.54] mg/dL 2 1.19E-05 rs767618089 19:11107506:A:G LDL-C LDLR FOURIER c.932A>G (p.Lys311Arg) missense_variant Conflicting 44.82 [15.75] mg/dL 3 NA rs761765254 19:11107513:C:G LDL-C LDLR FOURIER c.939C>G (p.Cys313Trp) missense_variant Conflicting 44.82 [15.75] mg/dL 3 3.99E-06 rs13306512 19:11110681:G:T LDL-C LDLR UKBB c.970G>T (p.Gly324Cys) missense_variant Uncertain Significance 38.07 [30.47] mg/dL 1 NA NA 19:11110690:C:T LDL-C LDLR UKBB c.979C>T (p.His327Tyr) missense_variant Conflicting 50.43 [12.43] mg/dL 6 5.98E-05 rs747507019 19:11110697:G:A LDL-C LDLR FOURIER c.986G>A (p.Cys329Tyr) missense_variant Conflicting 65.61 [26.89] mg/dL 1 1.59E-05 rs761954844 19:11110735:G:A LDL-C LDLR FOURIER c.1024G>A (p.Asp342Asn) missense_variant Conflicting 41.27 [27.34] mg/dL 1 4.54E-04 rs139361635 19:11110738:G:A LDL-C LDLR UKBB c.1027G>A (p.Gly343Ser) missense_variant Conflicting 21.58 [10.15] mg/dL 9 2.79E-05 rs730882096 19:11110738:G:A LDL-C LDLR FOURIER c.1027G>A (p.Gly343Ser) missense_variant Conflicting 17.4 [15.75] mg/dL 3 2.79E-05 rs730882096 19:11110760:G:C LDL-C LDLR UKBB c.1049G>C (p.Arg350Pro) missense_variant Conflicting 41.9 [13.48] mg/dL 5 NA rs875989914 19:11111518:C:G LDL-C LDLR UKBB c.1065C>G (p.Ile355Met) missense_variant Uncertain Significance 35.11 [30.46] mg/dL 1 7.96E-06 rs960032925 19:11111609:G:T LDL-C LDLR UKBB c.1156G>T (p.Asp386Tyr) missense_variant Uncertain Significance 19.81 [12.39] mg/dL 6 3.98E-06 rs1402951356 19:11111611:C:G LDL-C LDLR FOURIER c.1158C>G (p.Asp386Glu) missense_variant Conflicting 102.58 [27.66] mg/dL 1 NA rs879254810 19:11111619:C:T LDL-C LDLR UKBB c.1166C>T (p.Thr389Met) missense_variant Conflicting 18.29 [10.15] mg/dL 9 1.99E-05 rs149227308 19:11113280:T:C LDL-C LDLR UKBB c.1189T>C (p.Ser397Pro) missense_variant Uncertain Significance 21.02 [30.46] mg/dL 1 NA NA 19:11113292:CTCT:C LDL-C LDLR UKBB c.1204_1206TTC[1] (p.Phe403del) inframe_deletion Conflicting 41.83 [30.46] mg/dL 1 NA rs879254830 19:11113308:G:A LDL-C LDLR UKBB c.1217G>A (p.Arg406Gln) missense_variant Conflicting 34.93 [17.58] mg/dL 3 1.59E-05 rs552422789 19:11113329:C:T LDL-C LDLR UKBB c.1238C>T (p.Thr413Met) missense_variant Conflicting 33.45 [6.81] mg/dL 20 2.79E-05 rs368562025 19:11113329:C:T LDL-C LDLR FOURIER c.1238C>T (p.Thr413Met) missense_variant Conflicting 24.3 [27.64] mg/dL 1 2.79E-05 rs368562025 19:11113398:T:C LDL-C LDLR FOURIER c.1307T>C (p.Val436Ala) missense_variant Conflicting 20.14 [15.83] mg/dL 3 1.19E-05 rs779732323 19:11113419:G:C LDL-C LDLR UKBB c.1328G>C (p.Trp443Ser) missense_variant Conflicting 51.57 [30.46] mg/dL 1 NA rs879254866 19:11113426:C:G LDL-C LDLR UKBB c.1335C>G (p.Asp445Glu) missense_variant Uncertain Significance 27.67 [10.77] mg/dL 8 NA rs749780672 19:11113560:G:A LDL-C LDLR UKBB c.1384G>A (p.Val462Ile) missense_variant Conflicting 31.47 [15.23] mg/dL 4 5.58E-05 rs750363970 19:11113590:G:A LDL-C LDLR UKBB c.1414G>A (p.Asp472Asn) missense_variant Conflicting 42.78 [17.66] mg/dL 3 NA rs730882102 19:11113590:G:T LDL-C LDLR UKBB c.1414G>T (p.Asp472Tyr) missense_variant Conflicting 29.97 [10.77] mg/dL 8 5.57E-05 rs730882102 19:11113605:G:A LDL-C LDLR UKBB c.1429G>A (p.Asp477Asn) missense_variant Uncertain Significance 23.75 [30.47] mg/dL 1 3.98E-06 rs780316072 19:11113605:G:A LDL-C LDLR FOURIER c.1429G>A (p.Asp477Asn) missense_variant Uncertain Significance 26.92 [27.27] mg/dL 1 3.98E-06 rs780316072 19:11113608:G:A LDL-C LDLR UKBB c.1432G>A (p.Gly478Arg) missense_variant Conflicting 20.3 [21.54] mg/dL 2 2.79E-05 rs144614838 19:11113608:G:A LDL-C LDLR FOURIER c.1432G>A (p.Gly478Arg) missense_variant Conflicting 472.8 [27.21] mg/dL 1 2.79E-05 rs144614838 19:11113636:A:G LDL-C LDLR FOURIER c.1460A>G (p.Asn487Ser) missense_variant Conflicting 18.86 [27.53] mg/dL 1 NA rs879254912 19:11113679:G:A LDL-C LDLR UKBB c.1503G>A (p.Ala501=) synonymous_variant Conflicting 28.88 [17.35] mg/dL 3 3.18E-05 rs368889457 19:11116197:A:G LDL-C LDLR FOURIER c.1690A>G (p.Asn564Asp) missense_variant Conflicting 54.47 [27.19] mg/dL 1 NA rs397509365 19:11116873:C:T LDL-C LDLR UKBB c.1720C>T (p.Arg574Cys) missense_variant Conflicting 26.12 [15.15] mg/dL 4 3.18E-05 rs185098634 19:11116874:G:T LDL-C LDLR UKBB c.1721G>T (p.Arg574Leu) missense_variant Conflicting 50.84 [30.46] mg/dL 1 1.59E-05 rs777188764 19:11116900:C:T LDL-C LDLR UKBB c.1747C>T (p.His583Tyr) missense_variant Conflicting 21.12 [13.64] mg/dL 5 1.07E-04 rs730882109 19:11116918:G:A LDL-C LDLR UKBB c.1765G>A (p.Asp589Asn) missense_variant Uncertain Significance 27.02 [17.57] mg/dL 3 8.35E-05 rs201971888 19:11116936:C:T LDL-C LDLR UKBB c.1783C>T (p.Arg595Trp) missense_variant Conflicting 44.31 [10.77] mg/dL 8 3.98E-06 rs373371572 19:11116937:G:A LDL-C LDLR UKBB c.1784G>A (p.Arg595Gln) missense_variant Conflicting 42.86 [21.54] mg/dL 2 3.98E-05 rs201102492 19:11116949:T:C LDL-C LDLR UKBB c.1796T>C (p.Leu599Ser) missense_variant Conflicting 68.31 [15.23] mg/dL 4 NA rs879255025 19:11116969:G:A LDL-C LDLR UKBB c.1816G>A (p.Ala606Thr) missense_variant Conflicting 58.57 [30.5] mg/dL 1 3.58E-05 rs72658865 19:11120101:T:C LDL-C LDLR UKBB c.1855T>C (p.Phe619Leu) missense_variant Conflicting 30.44 [30.46] mg/dL 1 3.98E-06 rs747134711 19:11120114:T:C LDL-C LDLR UKBB c.1868T>C (p.Ile623Thr) missense_variant Uncertain Significance 19.63 [7.61] mg/dL 16 1.59E-05 rs141155833 19:11120158:G:A LDL-C LDLR UKBB c.1912G>A (p.Asp638Asn) missense_variant Uncertain Significance 23.95 [21.54] mg/dL 2 1.59E-05 rs757672647 19:11120212:C:A LDL-C LDLR UKBB c.1966C>A (p.His656Asn) missense_variant Conflicting 19.47 [11.51] mg/dL 7 1.19E-05 rs762815611 19:11120212:C:A LDL-C LDLR FOURIER c.1966C>A (p.His656Asn) missense_variant Conflicting 25.75 [27.27] mg/dL 1 1.19E-05 rs762815611 19:11120441:A:T LDL-C LDLR UKBB c.2059A>T (p.Ile687Phe) missense_variant Uncertain Significance 45.67 [13.62] mg/dL 5 3.98E-06 rs1060499932 19:11120454:C:T LDL-C LDLR UKBB c.2072C>T (p.Ser691Leu) missense_variant Uncertain Significance 34.61 [13.62] mg/dL 5 2.79E-05 rs369943481 19:11120478:C:T LDL-C LDLR UKBB c.2096C>T (p.Pro699Leu) missense_variant Conflicting 27.87 [17.59] mg/dL 3 1.99E-05 rs201573863 19:11120480:G:A LDL-C LDLR UKBB c.2098G>A (p.Asp700Asn) missense_variant Uncertain Significance 40.18 [10.76] mg/dL 8 1.99E-05 rs375009082 19:11123315:C:T LDL-C LDLR UKBB c.2282C>T (p.Thr761Met) missense_variant Conflicting 20.22 [7.7] mg/dL 16 5.17E-05 rs138477254 19:11128008:C:T LDL-C LDLR UKBB c.2312C>T (p.Ala771Val) missense_variant Conflicting 24.87 [30.42] mg/dL 1 3.18E-05 rs113972139 19:11128019:G:A LDL-C LDLR UKBB c.2323G>A (p.Val775Ile) missense_variant Uncertain Significance 36.26 [17.59] mg/dL 3 2.78E-05 rs199766976 19:11128085:G:A LDL-C LDLR UKBB c.2389G>A (p.Val797Met) missense_variant Conflicting 83.76 [30.46] mg/dL 1 7.96E-06 rs750518671 19:11128085:G:T LDL-C LDLR FOURIER c.2389G>T (p.Val797Leu) missense_variant Conflicting 89.14 [19.34] mg/dL 2 NA rs750518671 19:11129534:T:TG LDL-C LDLR UKBB c.2416dup (p.Val806fs) frameshift_variant Conflicting 28.31 [30.46] mg/dL 1 2.39E-05 rs773618064 19:11129534:T:TG LDL-C LDLR FOURIER c.2416dup (p.Val806fs) frameshift_variant Conflicting 133.9 [27.61] mg/dL 1 2.39E-05 rs773618064 19:11129635:A:G LDL-C LDLR UKBB c.2512A>G (p.Ile838Val) missense_variant Uncertain Significance 17.07 [30.46] mg/dL 1 NA rs1600765567 19:11129670:G:A LDL-C LDLR UKBB c.2547G>A (p.Ser849=) synonymous_variant Uncertain Significance 26.56 [21.54] mg/dL 2 3.98E-06 rs1249903899 2:21004403:C:T LDL-C APOB UKBB c.11953G>A (p.Asp3985Asn) missense_variant Uncertain Significance 26.27 [11.51] mg/dL 7 5.97E-05 rs772544842 2:21004610:G:A LDL-C APOB UKBB c.11854C>T (p.Arg3952Cys) missense_variant Uncertain Significance 24.62 [10.15] mg/dL 9 1.59E-05 rs535121944 2:21005124:G:A LDL-C APOB UKBB c.11744C>T (p.Ser3915Phe) missense_variant Uncertain Significance 19.2 [21.55] mg/dL 2 1.99E-05 rs201990496 2:21005293:C:T LDL-C APOB FOURIER c.11575G>A (p.Glu3859Lys) missense_variant Uncertain Significance 19.91 [27.39] mg/dL 1 3.98E-06 rs1378283331 2:21005583:T:G LDL-C APOB UKBB c.11285A>C (p.Lys3762Thr) missense_variant Uncertain Significance 44.52 [30.46] mg/dL 1 2.39E-05 rs753541880 2:21005858:C:G LDL-C APOB UKBB c.11010G>C (p.Arg3670Ser) missense_variant Uncertain Significance 72.93 [30.46] mg/dL 1 3.19E-05 rs148127628 2:21005943:C:T LDL-C APOB UKBB c.10925G>A (p.Gly3642Glu) missense_variant Uncertain Significance 17.74 [15.23] mg/dL 4 NA NA 2:21005994:T:C LDL-C APOB FOURIER c.10874A>G (p.Asn3625Ser) missense_variant Uncertain Significance 36.6 [27.24] mg/dL 1 NA NA 2:21006129:T:C LDL-C APOB UKBB c.10739A>G (p.Asn3580Ser) missense_variant Conflicting 23.72 [13.54] mg/dL 5 1.59E-05 rs762028704 2:21006288:C:T LDL-C APOB UKBB c.10580G>A (p.Arg3527Gln) missense_variant Conflicting 51.92 [2.67] mg/dL 131 2.75E-04 rs5742904 2:21006289:G:A LDL-C APOB UKBB c.10579C>T (p.Arg3527Trp) missense_variant Conflicting 20.84 [12.41] mg/dL 6 1.72E-04 rs144467873 2:21006289:G:A LDL-C APOB FOURIER c.10579C>T (p.Arg3527Trp) missense_variant Conflicting 42.51 [15.68] mg/dL 3 1.72E-04 rs144467873 2:21006297:T:G LDL-C APOB UKBB c.10571A>C (p.Lys3524Thr) missense_variant Uncertain Significance 39.29 [11.77] mg/dL 7 3.99E-06 rs750035232 2:21006357:A:G LDL-C APOB UKBB c.10511T>C (p.Val3504Ala) missense_variant Uncertain Significance 25.95 [30.46] mg/dL 1 NA NA 2:21006382:T:C LDL-C APOB UKBB c.10486A>G (p.Thr3496Ala) missense_variant Uncertain Significance 28.11 [17.46] mg/dL 3 1.99E-05 rs754800464 2:21006382:T:C LDL-C APOB FOURIER c.10486A>G (p.Thr3496Ala) missense_variant Uncertain Significance 93.65 [27.22] mg/dL 1 1.99E-05 rs754800464 2:21006385:A:T LDL-C APOB UKBB c.10483T>A (p.Ser3495Thr) missense_variant Uncertain Significance 40.21 [30.46] mg/dL 1 1.99E-05 rs535977033 2:21006498:G:C LDL-C APOB UKBB c.10370C>G (p.Ser3457Cys) missense_variant Uncertain Significance 19.46 [30.46] mg/dL 1 2.39E-05 rs778985735 2:21006831:C:A LDL-C APOB UKBB c.10037G>T (p.Ser3346Ile) missense_variant Conflicting 43.11 [21.52] mg/dL 2 1.59E-05 rs373190270 2:21006843:G:A LDL-C APOB UKBB c.10025C>T (p.Ser3342Phe) missense_variant Uncertain Significance 17.24 [15.23] mg/dL 4 8.77E-05 rs267599180 2:21007053:T:C LDL-C APOB UKBB c.9815A>G (p.Tyr3272Cys) missense_variant Uncertain Significance 23.47 [29.5] mg/dL 1 1.59E-05 rs1220960430 2:21007153:G:A LDL-C APOB UKBB c.9715C>T (p.His3239Tyr) missense_variant Uncertain Significance 34.76 [21.56] mg/dL 2 3.98E-06 rs755547544 2:21007155:G:A LDL-C APOB UKBB c.9713C>T (p.Ser3238Phe) missense_variant Uncertain Significance 35.04 [30.46] mg/dL 1 1.20E-05 rs777546847 2:21007174:T:C LDL-C APOB UKBB c.9694A>G (p.Lys3232Glu) missense_variant Conflicting 22.44 [11.51] mg/dL 7 1.24E-04 rs544521341 2:21007366:A:T LDL-C APOB UKBB c.9502T>A (p.Ser3168Thr) missense_variant Uncertain Significance 34.76 [21.56] mg/dL 2 3.98E-06 rs761382742 2:21007401:G:T LDL-C APOB UKBB c.9467C>A (p.Thr3156Lys) missense_variant Uncertain Significance 27.37 [17.58] mg/dL 3 3.98E-06 rs747569141 2:21007411:A:G LDL-C APOB UKBB c.9457T>C (p.Trp3153Arg) missense_variant Uncertain Significance 18.16 [21.54] mg/dL 2 7.97E-06 rs761484953 2:21007461:C:T LDL-C APOB UKBB c.9407G>A (p.Arg3136His) missense_variant Uncertain Significance 30.89 [10.71] mg/dL 8 5.18E-05 rs199590149 2:21007629:G:T LDL-C APOB UKBB c.9239C>A (p.Pro3080His) missense_variant Uncertain Significance 23.33 [21.54] mg/dL 2 7.97E-06 rs1429705510 2:21007647:T:C LDL-C APOB FOURIER c.9221A>G (p.Tyr3074Cys) missense_variant Uncertain Significance 23.16 [27.25] mg/dL 1 1.99E-05 rs372902533 2:21007693:G:A LDL-C APOB UKBB c.9175C>T (p.Arg3059Cys) missense_variant Conflicting 72.22 [30.42] mg/dL 1 7.97E-06 rs146377316 2:21007719:G:A LDL-C APOB UKBB c.9149C>T (p.Thr3050Ile) missense_variant Uncertain Significance 74.21 [30.46] mg/dL 1 NA rs766404863 2:21007773:G:T LDL-C APOB UKBB c.9095C>A (p.Thr3032Asn) missense_variant Uncertain Significance 28.53 [30.46] mg/dL 1 1.99E-05 rs754332101 2:21007788:C:T LDL-C APOB UKBB c.9080G>A (p.Gly3027Glu) missense_variant Uncertain Significance 52.4 [23.91] mg/dL 2 3.98E-06 rs757895045 2:21008090:T:G LDL-C APOB FOURIER c.8778A>C (p.Lys2926Asn) missense_variant Uncertain Significance 28.37 [27.2] mg/dL 1 NA rs925427080 2:21008148:C:T LDL-C APOB FOURIER c.8720G>A (p.Arg2907His) missense_variant Conflicting 24.26 [13.76] mg/dL 4 5.57E-05 rs751437976 2:21008166:G:C LDL-C APOB UKBB c.8702C>G (p.Ser2901Cys) missense_variant Uncertain Significance 57.44 [30.4] mg/dL 1 NA NA 2:21008175:A:G LDL-C APOB FOURIER c.8693T>C (p.Leu2898Pro) missense_variant Uncertain Significance 49.26 [27.41] mg/dL 1 2.39E-05 rs376974746 2:21008401:C:A LDL-C APOB UKBB c.8467G>T (p.Ala2823Ser) missense_variant Uncertain Significance 23.01 [13.59] mg/dL 5 3.98E-06 rs1378244531 2:21008474:C:A LDL-C APOB UKBB c.8394G>T (p.Glu2798Asp) missense_variant Uncertain Significance 37.06 [21.54] mg/dL 2 3.98E-06 rs760517113 2:21008625:T:C LDL-C APOB UKBB c.8243A>G (p.His2748Arg) missense_variant Uncertain Significance 20.64 [21.54] mg/dL 2 NA rs1049705142 2:21008642:C:A LDL-C APOB FOURIER c.8226G>T (p.Gln2742His) missense_variant Uncertain Significance 33.46 [27.3] mg/dL 1 7.97E-06 rs376773500 2:21008734:G:A LDL-C APOB FOURIER c.8134C>T (p.Arg2712Cys) missense_variant Uncertain Significance 21.75 [12.26] mg/dL 5 1.27E-04 rs372245645 2:21008739:T:A LDL-C APOB UKBB c.8129A>T (p.Asp2710Val) missense_variant Uncertain Significance 18.38 [11.58] mg/dL 7 7.96E-06 rs771882254 2:21008806:C:T LDL-C APOB UKBB c.8062G>A (p.Val2688Ile) missense_variant Uncertain Significance 18.36 [12.43] mg/dL 6 1.99E-05 rs756791670 2:21008821:C:G LDL-C APOB FOURIER c.8047G>C (p.Glu2683Gln) missense_variant Uncertain Significance 51.37 [27.38] mg/dL 1 3.98E-06 rs373846203 2:21009091:T:C LDL-C APOB UKBB c.7777A>G (p.Ile2593Val) missense_variant Uncertain Significance 51.96 [30.47] mg/dL 1 7.98E-06 rs758579572 2:21009170:C:G LDL-C APOB UKBB c.7698G>C (p.Glu2566Asp) missense_variant Conflicting 21.95 [9.65] mg/dL 10 1.12E-04 rs149306841 2:21009279:T:G LDL-C APOB UKBB c.7589A>C (p.Gln2530Pro) missense_variant Uncertain Significance 56.41 [21.55] mg/dL 2 3.98E-06 rs1489058435 2:21009298:A:G LDL-C APOB FOURIER c.7570T>C (p.Tyr2524His) missense_variant Uncertain Significance 20.6 [27.45] mg/dL 1 3.98E-06 rs933777198 2:21009469:T:G LDL-C APOB UKBB c.7399A>C (p.Lys2467Gln) missense_variant Uncertain Significance 50.99 [30.46] mg/dL 1 3.98E-06 rs1440285761 2:21009627:T:A LDL-C APOB UKBB c.7241A>T (p.Glu2414Val) missense_variant Uncertain Significance 17.04 [30.47] mg/dL 1 1.60E-05 rs200759464 2:21009659:C:A LDL-C APOB UKBB c.7209G>T (p.Lys2403Asn) missense_variant Uncertain Significance 23.35 [17.58] mg/dL 3 4.01E-06 rs777497625 2:21009993:A:G LDL-C APOB FOURIER c.6875T>C (p.Ile2292Thr) missense_variant Conflicting 28.54 [19.36] mg/dL 2 3.98E-05 rs145977507 2:21009997:C:T LDL-C APOB FOURIER c.6871G>A (p.Ala2291Thr) missense_variant Uncertain Significance 33.81 [27.44] mg/dL 1 NA NA 2:21010296:A:G LDL-C APOB UKBB c.6572T>C (p.Leu2191Ser) missense_variant Uncertain Significance 25.36 [13.62] mg/dL 5 4.91E-06 rs766444813 2:21010401:A:G LDL-C APOB UKBB c.6467T>C (p.Ile2156Thr) missense_variant Uncertain Significance 64.67 [17.58] mg/dL 3 NA rs1232529396 2:21010614:C:T LDL-C APOB UKBB c.6254G>A (p.Arg2085Gln) missense_variant Uncertain Significance 18.86 [30.46] mg/dL 1 7.96E-06 rs376782361 2:21010616:A:T LDL-C APOB FOURIER c.6252T>A (p.Asn2084Lys) missense_variant Uncertain Significance 39.25 [27.54] mg/dL 1 NA NA 2:21010707:A:C LDL-C APOB UKBB c.6161T>G (p.Ile2054Ser) missense_variant Uncertain Significance 59.2 [30.41] mg/dL 1 3.98E-06 rs538245770 2:21010850:G:A LDL-C APOB UKBB c.6018C>T (p.Gly2006=) synonymous_variant Conflicting 35.56 [13.62] mg/dL 5 1.99E-05 rs368422207 2:21010850:G:A LDL-C APOB FOURIER c.6018C>T (p.Gly2006=) synonymous_variant Conflicting 30.86 [27.16] mg/dL 1 1.99E-05 rs368422207 2:21011134:T:A LDL-C APOB FOURIER c.5734A>T (p.Asn1912Tyr) missense_variant Uncertain Significance 26.47 [27.16] mg/dL 1 3.58E-05 rs186480094 2:21011260:T:C LDL-C APOB UKBB c.5608A>G (p.Thr1870Ala) missense_variant Uncertain Significance 17.41 [17.59] mg/dL 3 1.59E-05 rs375985550 2:21011274:C:G LDL-C APOB UKBB c.5594G>C (p.Ser1865Thr) missense_variant Uncertain Significance 19.62 [30.46] mg/dL 1 3.98E-06 rs1451325201 2:21011434:C:A LDL-C APOB UKBB c.5434G>T (p.Gly1812Trp) missense_variant Uncertain Significance 27.55 [30.46] mg/dL 1 1.19E-05 rs140174653 2:21011481:G:C LDL-C APOB FOURIER c.5387C>G (p.Thr1796Ser) missense_variant Uncertain Significance 17.98 [19.33] mg/dL 2 5.17E-05 rs529168934 2:21011803:G:A LDL-C APOB FOURIER c.5065C>T (p.Arg1689Cys) missense_variant Uncertain Significance 24.87 [27.55] mg/dL 1 2.39E-05 rs780820172 2:21011939:C:T LDL-C APOB FOURIER c.4929G>A (p.Ala1643=) synonymous_variant Conflicting 23.33 [11.14] mg/dL 6 7.21E-05 rs200623857 2:21012072:C:T LDL-C APOB UKBB c.4796G>A (p.Arg1599His) missense_variant Conflicting 18.54 [10.77] mg/dL 8 1.40E-04 rs746414462 2:21012073:G:A LDL-C APOB UKBB c.4795C>T (p.Arg1599Cys) missense_variant Uncertain Significance 35.32 [30.46] mg/dL 1 1.20E-05 rs191145848 2:21012210:C:T LDL-C APOB UKBB c.4658G>A (p.Gly1553Asp) missense_variant Uncertain Significance 17.15 [30.46] mg/dL 1 NA NA 2:21012324:T:C LDL-C APOB UKBB c.4544A>G (p.Asn1515Ser) missense_variant Uncertain Significance 18.46 [30.46] mg/dL 1 NA rs1572785504 2:21012502:C:T LDL-C APOB UKBB c.4366G>A (p.Asp1456Asn) missense_variant Uncertain Significance 21.32 [10.73] mg/dL 8 1.51E-04 rs147759262 2:21013213:C:T LDL-C APOB FOURIER c.4163G>A (p.Arg1388His) missense_variant Conflicting 17.85 [10.39] mg/dL 7 1.91E-03 rs13306187 2:21013234:T:C LDL-C APOB UKBB c.4142A>G (p.Asp1381Gly) missense_variant Uncertain Significance 51.68 [30.47] mg/dL 1 NA rs1328748832 2:21013237:G:A LDL-C APOB UKBB c.4139C>T (p.Thr1380Ile) missense_variant Uncertain Significance 19.2 [30.46] mg/dL 1 3.98E-06 rs752474043 2:21013349:G:A LDL-C APOB FOURIER c.4027C>T (p.Pro1343Ser) missense_variant Uncertain Significance 31.41 [27.18] mg/dL 1 2.39E-05 rs374427541 2:21013379:G:C LDL-C APOB UKBB c.3997C>G (p.Arg1333Gly) missense_variant Uncertain Significance 18.47 [21.54] mg/dL 2 7.95E-06 rs121918383 2:21013441:A:G LDL-C APOB UKBB c.3935T>C (p.Met1312Thr) missense_variant Uncertain Significance 18.81 [17.61] mg/dL 3 1.99E-05 rs763989940 2:21013507:T:G LDL-C APOB UKBB c.3869A>C (p.Asn1290Thr) missense_variant Uncertain Significance 21.21 [21.54] mg/dL 2 3.98E-06 rs749608934 2:21014462:G:T LDL-C APOB FOURIER c.3828C>A (p.Asn1276Lys) missense_variant Uncertain Significance 24.74 [27.47] mg/dL 1 5.17E-05 rs199966747 2:21014495:G:C LDL-C APOB UKBB c.3795C>G (p.Asn1265Lys) missense_variant Uncertain Significance 24.45 [30.46] mg/dL 1 NA rs886055590 2:21014573:C:A LDL-C APOB FOURIER c.3717G>T (p.Gln1239His) missense_variant Uncertain Significance 73.9 [27.64] mg/dL 1 NA rs756559649 2:21016626:T:C LDL-C APOB UKBB c.3145A>G (p.Met1049Val) missense_variant Uncertain Significance 16.99 [30.46] mg/dL 1 7.95E-06 rs1470970950 2:21019732:C:T LDL-C APOB UKBB c.2990G>A (p.Gly997Glu) missense_variant Uncertain Significance 59.26 [30.46] mg/dL 1 NA rs1558568864 2:21019754:C:T LDL-C APOB FOURIER c.2968G>A (p.Ala990Thr) missense_variant Conflicting 132.38 [27.39] mg/dL 1 4.78E-05 rs139434026 2:21019859:G:A LDL-C APOB UKBB c.2863C>T (p.Pro955Ser) missense_variant Conflicting 30.93 [15.26] mg/dL 4 2.11E-04 rs13306206 2:21022907:G:A LDL-C APOB UKBB c.2740C>T (p.His914Tyr) missense_variant Uncertain Significance 24.15 [30.47] mg/dL 1 3.58E-05 rs775976285 2:21023005:A:G LDL-C APOB UKBB c.2642T>C (p.Val881Ala) missense_variant Uncertain Significance 24.47 [15.23] mg/dL 4 7.96E-06 rs781511068 2:21023593:A:T LDL-C APOB FOURIER c.2536T>A (p.Leu846Met) missense_variant Uncertain Significance 30.82 [19.43] mg/dL 2 1.99E-05 rs189880634 2:21026793:C:T LDL-C APOB FOURIER c.2239G>A (p.Glu747Lys) missense_variant Uncertain Significance 64.8 [27.48] mg/dL 1 3.98E-06 rs756379920 2:21026909:T:C LDL-C APOB FOURIER c.2123A>G (p.Gln708Arg) missense_variant Uncertain Significance 50.71 [27.43] mg/dL 1 8.35E-05 rs371190827 2:21029968:G:A LDL-C APOB FOURIER c.1400C>T (p.Ala467Val) missense_variant Uncertain Significance 146.4 [27.37] mg/dL 1 NA NA 2:21029968:G:A LDL-C APOB UKBB c.1400C>T (p.Ala467Val) missense_variant Uncertain Significance 19.1 [30.46] mg/dL 1 NA NA 2:21032397:G:A LDL-C APOB UKBB c.1309C>T (p.Arg437Cys) missense_variant Uncertain Significance 21.4 [21.54] mg/dL 2 7.97E-06 rs776786681 2:21034831:G:A LDL-C APOB UKBB c.889C>T (p.Arg297Cys) missense_variant Uncertain Significance 35.61 [13.62] mg/dL 5 9.94E-05 rs766376456 2:21035683:C:T LDL-C APOB UKBB c.719G>A (p.Ser240Asn) missense_variant Uncertain Significance 64.06 [30.46] mg/dL 1 3.98E-06 rs1275483212 2:21037104:C:T LDL-C APOB UKBB c.689G>A (p.Gly230Asp) missense_variant Uncertain Significance 27.23 [21.54] mg/dL 2 7.95E-06 rs755661819 2:21037138:G:A LDL-C APOB UKBB c.655C>T (p.Arg219Cys) missense_variant Uncertain Significance 36.81 [13.62] mg/dL 5 3.18E-05 rs145661815 2:21037224:A:G LDL-C APOB UKBB c.569T>C (p.Phe190Ser) missense_variant Uncertain Significance 18.18 [7.86] mg/dL 15 7.95E-06 rs1004490491 2:21037987:T:A LDL-C APOB FOURIER c.508A>T (p.Thr170Ser) missense_variant Uncertain Significance 51.43 [27.38] mg/dL 1 3.98E-06 rs370493370 2:21038092:T:C LDL-C APOB UKBB c.403A>G (p.Ile135Val) missense_variant Conflicting 17.56 [17.59] mg/dL 3 3.98E-05 rs769296548 2:21038092:T:C LDL-C APOB FOURIER c.403A>G (p.Ile135Val) missense_variant Conflicting 59.23 [27.38] mg/dL 1 3.98E-05 rs769296548 2:21038095:C:A LDL-C APOB FOURIER c.400G>T (p.Ala134Ser) missense_variant Conflicting 24.84 [27.5] mg/dL 1 1.71E-04 rs368321279 2:21038095:C:T LDL-C APOB UKBB c.400G>A (p.Ala134Thr) missense_variant Uncertain Significance 39.42 [15.23] mg/dL 4 NA rs368321279 2:21041001:G:A LDL-C APOB UKBB c.320C>T (p.Pro107Leu) missense_variant Uncertain Significance 31.25 [12.43] mg/dL 6 3.98E-06 rs1270615687 2:21041003:G:C LDL-C APOB UKBB c.318C>G (p.Asn106Lys) missense_variant Uncertain Significance 39.45 [21.54] mg/dL 2 1.59E-05 rs371662800 20:44414561:A:G HbA1c HNF4A FOURIER c.481A>G (p.Ser161Gly) missense_variant Uncertain Significance 0.68 [0.51] (%) 3 1.59E-05 rs779555087 20:44424117:G:A HbA1c HNF4A UKBB c.926G>A (p.Arg309His) missense_variant Uncertain Significance 0.54 [0.49] (%) 1 4.02E-06 rs369429452 20:44424123:G:A HbA1c HNF4A UKBB c.998G>A (p.Arg333His) missense_variant Conflicting 0.42 [0.49] (%) 1 4.02E-06 rs1375557127 3:38550348:C:T QTc SCN5A TOPMed c.6024G>A (p.Pro2008=) synonymous_variant Uncertain Significance 17.56 [22.05] ms 1 5.18E-06 rs765024596 3:38550368:C:T QTc SCN5A UKBB c.6001G>A (p.Ala2001Thr) missense_variant Uncertain Significance 15.65 [23.07] ms 1 3.07E-05 rs771018427 3:38550369:G:A QTc SCN5A TOPMed c.6000C>T (p.Leu2000=) synonymous_variant Conflicting 19.93 [12.89] ms 3 0.0005935 rs538707712 3:38550401:G:A QTc SCN5A UKBB c.5971C>T (p.Arg1991Trp) missense_variant Uncertain Significance 26.06 [22.75] ms 1 1.37E-05 rs371308670 3:38550409:A:C QTc SCN5A TOPMed c.5963T>G (p.Leu1988Arg) missense_variant Conflicting 15.51 [15.5] ms 2 2.40E-04 rs145009013 3:38550409:A:C QTc SCN5A UKBB c.5963T>G (p.Leu1988Arg) missense_variant Conflicting 15.19 [23.12] ms 1 2.40E-04 rs145009013 3:38550411:G:T QTc SCN5A TOPMed c.5958C>A (p.Asn1986Lys) missense_variant Uncertain Significance 35.49 [21.85] ms 1 8.82E-06 rs199473335 3:38550434:C:A QTc SCN5A TOPMed c.5938G>T (p.Val1980Phe) missense_variant Conflicting 21.35 [21.89] ms 1 1.26E-05 rs772258197 3:38550459:AGTGGAGGAG:A QTc SCN5A TOPMed c.5901_5909del (p.Ser1969_Ser1971del) inframe_deletion Uncertain Significance 30.63 [22.31] ms 1 4.11E-06 rs745812849 3:38550512:C:T QTc SCN5A UKBB c.5857G>A (p.Glu1953Lys) missense_variant Uncertain Significance 14.46 [23.08] ms 1 2.44E-05 rs397517956 3:38550522:G:A QTc SCN5A UKBB c.5847C>T (p.Tyr1949=) synonymous_variant Conflicting 42.45 [22.64] ms 1 4.45E-05 rs367778922 3:38550527:C:T QTc SCN5A UKBB c.5845G>A (p.Ala1949Thr) missense_variant Uncertain Significance 28.2 [16.31] ms 2 2.83E-05 rs199473330 3:38550527:C:T QTc SCN5A TOPMed c.5845G>A (p.Ala1949Thr) missense_variant Uncertain Significance 17.43 [21.85] ms 1 2.83E-05 rs199473330 3:38550541:C:T QTc SCN5A UKBB c.5831G>A (p.Arg1944Gln) missense_variant Conflicting 15.85 [23.11] ms 1 1.61E-05 rs767089602 3:38550569:C:T QTc SCN5A TOPMed c.5803G>A (p.Gly1935Ser) missense_variant Uncertain Significance 65.85 [15.72] ms 2 2.81E-05 rs199473637 3:38550602:C:T QTc SCN5A TOPMed c.5770G>A (p.Ala1924Thr) missense_variant Conflicting 14.31 [11.2] ms 4 6.02E-05 rs137854603 3:38550617:G:A QTc SCN5A TOPMed c.5755C>T (p.Arg1919Cys) missense_variant Uncertain Significance 29.43 [22.26] ms 1 1.60E-05 rs199473328 3:38550629:G:A QTc SCN5A TOPMed c.5740C>T (p.His1914Tyr) missense_variant Uncertain Significance 24.88 [21.87] ms 1 2.01E-05 rs762462124 3:38550634:C:T QTc SCN5A TOPMed c.5738G>A (p.Arg1913His) missense_variant Uncertain Significance 17.49 [21.88] ms 1 2.41E-05 rs199473327 3:38550683:G:A QTc SCN5A TOPMed c.5686C>T (p.Arg1896Trp) missense_variant Uncertain Significance 20.45 [9.09] ms 6 7.62E-05 rs45465995 3:38550721:G:A QTc SCN5A UKBB c.5651C>T (p.Pro1884Leu) missense_variant Uncertain Significance 12.11 [23.08] ms 1 6.82E-05 rs755162776 3:38550845:C:G QTc SCN5A UKBB c.5527G>C (p.Val1843Leu) missense_variant Uncertain Significance 29.71 [23.06] ms 1 NA rs1559720356 3:38550917:C:T QTc SCN5A TOPMed c.5455G>A (p.Asp1819Asn) missense_variant Conflicting 30.64 [12.68] ms 3 2.72E-04 rs137854619 3:38550966:G:C QTc SCN5A TOPMed c.5406C>G (p.Asp1802Glu) missense_variant Uncertain Significance 82.33 [16.51] ms 2 NA rs1367727373 3:38551005:G:A QTc SCN5A TOPMed c.5367C>T (p.Asp1789=) synonymous_variant Conflicting 11.98 [8.62] ms 7 0.0001316 rs375752426 3:38551036:G:A QTc SCN5A UKBB c.5333C>T (p.Thr1778Met) missense_variant Conflicting 17.94 [13.33] ms 3 3.98E-05 rs199473634 3:38551043:C:T QTc SCN5A UKBB c.5329G>A (p.Val1777Met) missense_variant Uncertain Significance 18.36 [9.42] ms 6 1.59E-05 rs199473314 3:38551280:C:T QTc SCN5A UKBB c.5092G>A (p.Ala1698Thr) missense_variant Uncertain Significance 27.28 [23.07] ms 1 1.19E-05 rs199473295 3:38551344:C:T QTc SCN5A UKBB c.5028G>A (p.Met1676Ile) missense_variant Uncertain Significance 24.02 [23.1] ms 1 1.99E-05 rs764782158 3:38551438:G:A QTc SCN5A UKBB c.4934C>T (p.Thr1645Met) missense_variant Conflicting 18.53 [16.31] ms 2 2.39E-05 rs199473288 3:38551455:C:T QTc SCN5A UKBB c.4917G>A (p.Gly1639=) synonymous_variant Conflicting 28.29 [23.07] ms 1 1.19E-05 rs1419998623 3:38551537:A:T QTc SCN5A UKBB c.4835T>A (p.Ile1612Asn) missense_variant Uncertain Significance 47.74 [16.31] ms 2 NA rs1553693063 3:38551545:C:T QTc SCN5A UKBB c.4827G>A (p.Ser1609=) synonymous_variant Conflicting 13.74 [23.07] ms 1 8.00E-06 rs886058460 3:38551546:G:A QTc SCN5A UKBB c.4823C>T (p.Ser1608Leu) missense_variant Uncertain Significance 27.68 [23.07] ms 1 1.20E-05 rs199473622 3:38551548:G:A QTc SCN5A UKBB c.4821C>T (p.Leu1607=) synonymous_variant Conflicting 21.14 [13.32] ms 3 0.002553 rs45437099 3:38554344:C:T QTc SCN5A UKBB c.4745G>A (p.Arg1582His) missense_variant Conflicting 16.07 [16.31] ms 2 2.01E-05 rs199473621 3:38554525:C:T QTc SCN5A UKBB c.4564G>A (p.Asp1522Asn) missense_variant Uncertain Significance 35.41 [23.07] ms 1 4.02E-05 rs777254969 3:38555663:C:T QTc SCN5A UKBB c.4535G>A (p.Arg1512Gln) missense_variant Uncertain Significance 21.29 [16.31] ms 2 2.39E-05 rs368219299 3:38555664:G:A QTc SCN5A TOPMed c.4531C>T (p.Arg1511Trp) missense_variant Conflicting 20.97 [21.92] ms 1 5.57E-05 rs137854602 3:38560221:C:T QTc SCN5A UKBB c.4171G>A (p.Gly1391Arg) missense_variant Uncertain Significance 18.3 [23.07] ms 1 3.60E-05 rs780405533 3:38560335:C:T QTc SCN5A UKBB c.4057G>A (p.Val1353Met) missense_variant Conflicting 28.18 [23.08] ms 1 2.78E-05 rs199473233 3:38560335:C:T QTc SCN5A TOPMed c.4057G>A (p.Val1353Met) missense_variant Conflicting 29.66 [21.89] ms 1 2.78E-05 rs199473233 3:38562471:G:T QTc SCN5A UKBB c.3904C>A (p.Arg1302=) synonymous_variant Conflicting 16.3 [23.07] ms 1 2.82E-05 rs200334972 3:38566522:C:T QTc SCN5A TOPMed c.3724G>A (p.Asp1242Asn) missense_variant Conflicting 29.58 [9.83] ms 5 1.43E-04 rs199473599 3:38566531:C:G QTc SCN5A UKBB c.3718G>C (p.Glu1240Gln) missense_variant Uncertain Significance 52.61 [11.56] ms 4 3.98E-05 rs199473211 3:38575443:G:A QTc SCN5A UKBB c.3520C>T (p.Arg1174Trp) missense_variant Uncertain Significance 15.9 [23.07] ms 1 3.08E-05 rs367906630 3:38576713:C:G QTc SCN5A UKBB c.3459G>C (p.Gln1153His) missense_variant Uncertain Significance 22.82 [16.35] ms 2 5.47E-05 rs776705132 3:38576733:T:C QTc SCN5A UKBB c.3439A>G (p.Thr1147Ala) missense_variant Uncertain Significance 36.29 [23.07] ms 1 NA rs794728930 3:38576780:G:A QTc SCN5A TOPMed c.3392C>T (p.Thr1131Ile) missense_variant Uncertain Significance 22.15 [12.8] ms 3 2.51E-05 rs199473197 3:38579378:G:A QTc SCN5A UKBB c.3346C>T (p.Arg1116Trp) missense_variant Uncertain Significance 29.87 [23.07] ms 1 2.11E-05 rs199473196 3:38579406:G:A QTc SCN5A UKBB c.3318C>T (p.Ala1106=) synonymous_variant Conflicting 12.24 [23.07] ms 1 2.04E-05 rs377603706 3:38579489:A:T QTc SCN5A TOPMed c.3235T>A (p.Ser1079Thr) missense_variant Uncertain Significance 36.12 [22.36] ms 1 2.07E-05 rs376183542 3:38580934:C:A QTc SCN5A UKBB c.3225G>T (p.Lys1075Asn) missense_variant Uncertain Significance 26.04 [13.31] ms 3 NA rs1553699582 3:38581026:C:T QTc SCN5A TOPMed c.3133G>A (p.Val1045Met) missense_variant Uncertain Significance 16.9 [22.34] ms 1 2.41E-05 rs527480102 3:38581063:C:A QTc SCN5A TOPMed c.3096G>T (p.Glu1032Asp) missense_variant Uncertain Significance 56.64 [22.33] ms 1 4.02E-06 rs376815707 3:38581065:C:T QTc SCN5A UKBB c.3094G>A (p.Glu1032Lys) missense_variant Conflicting 30.19 [23.08] ms 1 4.43E-05 rs369565476 3:38581127:G:A QTc SCN5A UKBB c.3032C>T (p.Pro1011Leu) missense_variant Uncertain Significance 15.02 [16.31] ms 2 3.27E-05 rs369249772 3:38581236:G:A QTc SCN5A UKBB c.2923C>T (p.Arg975Trp) missense_variant Uncertain Significance 42.41 [23.06] ms 1 3.31E-05 rs41311135 3:38581284:G:A QTc SCN5A TOPMed c.2875C>T (p.Leu959Phe) missense_variant Uncertain Significance 45.52 [21.88] ms 1 NA rs1329499714 3:38581340:C:T QTc SCN5A TOPMed c.2819G>A (p.Ser940Asn) missense_variant Uncertain Significance 47.27 [21.86] ms 1 4.05E-06 rs879123756 3:38585881:G:A QTc SCN5A UKBB c.2597C>T (p.Ser866Leu) missense_variant Uncertain Significance 12.86 [16.33] ms 2 1.19E-05 rs755194086 3:38585936:T:A QTc SCN5A TOPMed c.2542A>T (p.Ile848Phe) missense_variant Uncertain Significance 17.1 [15.46] ms 2 3.98E-06 rs199473166 3:38587422:G:A QTc SCN5A UKBB c.2414C>T (p.Ser805Leu) missense_variant Uncertain Significance 28.04 [16.31] ms 2 8.05E-06 rs767947088 3:38587446:C:T QTc SCN5A UKBB c.2390G>A (p.Gly797Asp) missense_variant Uncertain Significance 23.95 [23.04] ms 1 NA NA 3:38597734:T:G QTc SCN5A TOPMed c.2257A>C (p.Asn753His) missense_variant Uncertain Significance 26.35 [21.92] ms 1 NA NA 3:38597944:A:C QTc SCN5A TOPMed c.2047T>G (p.Cys683Gly) missense_variant Uncertain Significance 23.27 [21.86] ms 1 NA rs199473144 3:38598948:C:T QTc SCN5A UKBB c.1993G>A (p.Ala665Thr) missense_variant Uncertain Significance 46.39 [23.07] ms 1 6.43E-05 rs756474485 3:38598965:C:T QTc SCN5A TOPMed c.1976G>A (p.Arg659Gln) missense_variant Uncertain Significance 35.86 [15.73] ms 2 1.21E-05 rs374908012 3:38598998:G:A QTc SCN5A TOPMed c.1943C>T (p.Pro648Leu) missense_variant Uncertain Significance 20.35 [7.84] ms 8 4.03E-05 rs45609733 3:38599027:G:A QTc SCN5A TOPMed c.1914C>T (p.Gly638=) synonymous_variant Conflicting 32.85 [12.73] ms 3 3.24E-05 rs764488677 3:38603722:G:A QTc SCN5A TOPMed c.1880C>T (p.Pro627Leu) missense_variant Uncertain Significance 61.36 [22.3] ms 1 1.70E-05 rs778522112 3:38603743:C:T QTc SCN5A UKBB c.1859G>A (p.Arg620His) missense_variant Uncertain Significance 15.44 [23.07] ms 1 3.14E-05 rs746504626 3:38603826:G:C QTc SCN5A TOPMed c.1776C>G (p.Asn592Lys) missense_variant Uncertain Significance 29.54 [21.89] ms 1 3.23E-05 rs199473130 3:38603852:C:G QTc SCN5A TOPMed c.1750G>C (p.Gly584Arg) missense_variant Uncertain Significance 33.78 [15.78] ms 2 2.82E-05 rs763240431 3:38603868:G:A QTc SCN5A TOPMed c.1734C>T (p.Pro578=) synonymous_variant Conflicting 12.01 [9.95] ms 5 3.22E-05 rs200868190 3:38603890:C:A QTc SCN5A TOPMed c.1712G>T (p.Ser571Ile) missense_variant Uncertain Significance 21.38 [12.65] ms 3 3.21E-05 rs199473126 3:38603899:C:T QTc SCN5A TOPMed c.1703G>A (p.Arg568His) missense_variant Uncertain Significance 32.03 [12.95] ms 3 2.01E-05 rs199473125 3:38603939:C:T QTc SCN5A UKBB c.1663G>A (p.Glu555Lys) missense_variant Uncertain Significance 38.26 [23.08] ms 1 3.21E-05 rs199473123 3:38603940:G:A QTc SCN5A TOPMed c.1662C>T (p.Ser554=) synonymous_variant Conflicting 14.27 [22.3] ms 1 1.61E-05 rs536201762 3:38604005:G:T QTc SCN5A UKBB c.1597C>A (p.Arg533Ser) missense_variant Uncertain Significance 17.7 [23.11] ms 1 2.02E-05 rs775576991 3:38604064:C:T QTc SCN5A TOPMed c.1538G>A (p.Arg513His) missense_variant Conflicting 12.6 [15.67] ms 2 4.33E-06 rs397517951 3:38604730:A:T QTc SCN5A UKBB c.1517T>A (p.Met506Lys) missense_variant Uncertain Significance 16.15 [16.31] ms 2 4.03E-06 rs760531609 3:38604863:C:T QTc SCN5A UKBB c.1384G>A (p.Glu462Lys) missense_variant Uncertain Significance 12.25 [13.32] ms 3 2.82E-05 rs199473572 3:38606016:C:T QTc SCN5A UKBB c.1273G>A (p.Ala425Thr) missense_variant Conflicting 37.85 [23.06] ms 1 NA rs761117662 3:38606772:T:C QTc SCN5A UKBB c.1037A>G (p.Glu346Gly) missense_variant Uncertain Significance 11.88 [9.42] ms 6 4.02E-06 rs780735882 3:38606791:G:A QTc SCN5A UKBB c.1018C>T (p.Arg340Trp) missense_variant Uncertain Significance 19.22 [23.06] ms 1 4.02E-06 rs199473094 3:38609776:C:T QTc SCN5A UKBB c.892G>A (p.Gly298Ser) missense_variant Uncertain Significance 14.67 [16.3] ms 2 2.41E-05 rs137854608 3:38609788:C:T QTc SCN5A TOPMed c.880G>A (p.Val294Met) missense_variant Uncertain Significance 57.78 [21.87] ms 1 2.41E-05 rs199473086 3:38613769:G:A QTc SCN5A UKBB c.677C>T (p.Ala226Val) missense_variant Conflicting 14.33 [23.12] ms 1 9.13E-05 rs199473561 3:38613772:C:T QTc SCN5A TOPMed c.674G>A (p.Arg225Gln) missense_variant Conflicting 13.5 [21.84] ms 1 1.66E-05 rs199473071 3:38620843:G:A QTc SCN5A UKBB c.611C>T (p.Ala204Val) missense_variant Uncertain Significance 16.29 [23.08] ms 1 NA rs199473559 3:38620886:G:A QTc SCN5A TOPMed c.568C>T (p.Arg190Trp) missense_variant Uncertain Significance 14.82 [21.88] ms 1 1.65E-05 rs199473068 3:38620958:C:T QTc SCN5A TOPMed c.496G>A (p.Ala166Thr) missense_variant Uncertain Significance 13.21 [21.85] ms 1 2.13E-04 rs201232332 3:38620959:G:A QTc SCN5A TOPMed c.495C>T (p.Thr165=) synonymous_variant Conflicting 24.82 [15.51] ms 2 3.62E-05 rs62242804 3:38630335:G:A QTc SCN5A TOPMed c.368C>T (p.Ala123Val) missense_variant Uncertain Significance 28.65 [21.88] ms 1 7.62E-05 rs765699394 3:38630423:T:C QTc SCN5A UKBB c.280A>G (p.Ile94Val) missense_variant Uncertain Significance 15.96 [8.72] ms 7 1.20E-05 rs202114798 7:150946918:C:T QTc KCNH2 TOPMed c.3289G>A (p.Val1097Ile) missense_variant Uncertain Significance 32.3 [22.11] ms 1 1.67E-05 rs199473030 7:150946956:G:A QTc KCNH2 TOPMed c.3251C>T (p.Pro1084Leu) missense_variant Uncertain Significance 19.63 [21.91] ms 1 4.84E-05 rs762510312 7:150946960:T:C QTc KCNH2 UKBB c.3247A>G (p.Thr1083Ala) missense_variant Uncertain Significance 30.72 [23.06] ms 1 3.64E-05 rs751559990 7:150946983:G:A QTc KCNH2 TOPMed c.3224C>T (p.Pro1075Leu) missense_variant Uncertain Significance 23.73 [11.09] ms 4 2.00E-05 rs199473028 7:150947020:C:G QTc KCNH2 TOPMed c.3187G>C (p.Val1063Leu) missense_variant Uncertain Significance 15.95 [12.79] ms 3 2.01E-05 rs139722868 7:150947036:A:G QTc KCNH2 UKBB c.3171T>C (p.Ser1057=) synonymous_variant Uncertain Significance 12.02 [23.07] ms 1 NA NA 7:150947043:C:T QTc KCNH2 TOPMed c.3164G>A (p.Arg1055Gln) missense_variant Conflicting 19.04 [15.49] ms 2 9.01E-05 rs41307270 7:150947044:G:A QTc KCNH2 TOPMed c.3163C>T (p.Arg1055Trp) missense_variant Uncertain Significance 40.28 [11.16] ms 4 2.87E-05 rs541259035 7:150947340:C:T QTc KCNH2 TOPMed c.3140G>A (p.Arg1047His) missense_variant Uncertain Significance 38.04 [22.3] ms 1 2.12E-05 rs36210421 7:150947368:C:T QTc KCNH2 UKBB c.3112G>A (p.Val1038Met) missense_variant Conflicting 28.57 [23.12] ms 1 1.24E-04 rs199473544 7:150947372:G:A QTc KCNH2 TOPMed c.3108C>T (p.Gly1036=) synonymous_variant Conflicting 26.83 [15.48] ms 2 2.77E-05 rs373414022 7:150947379:G:GGCC QTc KCNH2 UKBB c.2078_2080dup (p.Arg693_Pro694insArg) inframe_insertion Uncertain Significance 33.08 [23.1] ms 1 NA rs1060499872 7:150947386:G:A QTc KCNH2 TOPMed c.3094C>T (p.Arg1032Trp) missense_variant Uncertain Significance 14.18 [9.85] ms 5 9.55E-05 rs373394254 7:150947386:G:A QTc KCNH2 UKBB c.3094C>T (p.Arg1032Trp) missense_variant Uncertain Significance 33.45 [23.07] ms 1 9.55E-05 rs373394254 7:150947401:G:T QTc KCNH2 TOPMed c.3079C>A (p.Leu1027Ile) missense_variant Conflicting 41.6 [22.32] ms 1 6.69E-06 rs794728346 7:150947431:C:A QTc KCNH2 TOPMed c.3049G>T (p.Ala1017Ser) missense_variant Uncertain Significance 17.71 [21.9] ms 1 6.40E-06 rs950543448 7:150947668:G:A QTc KCNH2 TOPMed c.2903C>T (p.Pro968Leu) missense_variant Uncertain Significance 14.87 [12.96] ms 3 3.44E-05 rs199473017 7:150947684:G:T QTc KCNH2 UKBB c.2887C>A (p.Pro963Thr) missense_variant Uncertain Significance 15.54 [13.32] ms 3 NA rs199473014 7:150947710:C:T QTc KCNH2 UKBB c.2861G>A (p.Arg954His) missense_variant Uncertain Significance 13.54 [16.31] ms 2 1.55E-05 rs772977598 7:150947710:C:T QTc KCNH2 TOPMed c.2861G>A (p.Arg954His) missense_variant Uncertain Significance 18.49 [21.87] ms 1 1.55E-05 rs772977598 7:150947778:C:T QTc KCNH2 UKBB c.2793G>A (p.Pro931=) synonymous_variant Uncertain Significance 21.56 [16.31] ms 2 1.50E-05 rs200976506 7:150947794:G:A QTc KCNH2 TOPMed c.2777C>T (p.Pro926Leu) missense_variant Uncertain Significance 17.42 [21.86] ms 1 1.54E-05 rs996063617 7:150947797:C:G QTc KCNH2 TOPMed c.2774G>C (p.Gly925Ala) missense_variant Uncertain Significance 29.83 [22.31] ms 1 7.76E-06 rs794728398 7:150947818:C:T QTc KCNH2 TOPMed c.2753G>A (p.Ser918Asn) missense_variant Uncertain Significance 16.23 [21.92] ms 1 NA rs1268921735 7:150947842:G:A QTc KCNH2 TOPMed c.2729C>T (p.Pro910Leu) missense_variant Uncertain Significance 12.41 [9.06] ms 6 1.07E-04 rs199473436 7:150948452:G:T QTc KCNH2 TOPMed c.2684C>A (p.Thr895Lys) missense_variant Uncertain Significance 65.83 [22.13] ms 1 NA NA 7:150948471:A:C QTc KCNH2 TOPMed c.2665T>G (p.Leu889Val) missense_variant Conflicting 20.65 [11.13] ms 4 8.46E-05 rs765427343 7:150948471:A:C QTc KCNH2 UKBB c.2665T>G (p.Leu889Val) missense_variant Conflicting 42.46 [23.09] ms 1 8.46E-05 rs765427343 7:150948483:G:A QTc KCNH2 UKBB c.2653C>T (p.Arg885Cys) missense_variant Uncertain Significance 38.38 [23.06] ms 1 2.24E-04 rs143512106 7:150948510:C:T QTc KCNH2 UKBB c.2626G>A (p.Glu876Lys) missense_variant Uncertain Significance 12.05 [23.08] ms 1 NA rs1554424688 7:150948524:G:A QTc KCNH2 TOPMed c.2612C>T (p.Ser871Phe) missense_variant Uncertain Significance 28.58 [21.87] ms 1 3.99E-06 rs1177213407 7:150950194:C:T QTc KCNH2 UKBB c.2372G>A (p.Arg791Gln) missense_variant Uncertain Significance 12.7 [23.1] ms 1 7.97E-06 rs770393669 7:150950195:G:A QTc KCNH2 UKBB c.2371C>T (p.Arg791Trp) missense_variant Conflicting 36.12 [11.56] ms 4 7.57E-05 rs138498207 7:150950195:G:A QTc KCNH2 TOPMed c.2371C>T (p.Arg791Trp) missense_variant Conflicting 17.98 [11.15] ms 4 7.57E-05 rs138498207 7:150950216:G:A QTc KCNH2 TOPMed c.2350C>T (p.Arg784Trp) missense_variant Conflicting 40.46 [21.87] ms 1 3.98E-06 rs12720441 7:150950335:C:T QTc KCNH2 TOPMed c.2231G>A (p.Arg744Gln) missense_variant Uncertain Significance 17.54 [21.85] ms 1 4.00E-06 rs1264176305 7:150950938:C:T QTc KCNH2 UKBB c.2128G>A (p.Gly710Ser) missense_variant Uncertain Significance 13.82 [23.07] ms 1 NA rs1584851956 7:150950974:C:T QTc KCNH2 UKBB c.2092G>A (p.Glu698Lys) missense_variant Uncertain Significance 23.12 [11.53] ms 4 7.96E-06 rs753966347 7:150951013:G:A QTc KCNH2 TOPMed c.2053C>T (p.Arg685Cys) missense_variant Conflicting 11.96 [12.82] ms 3 7.96E-06 rs778135438 7:150951732:A:G QTc KCNH2 UKBB c.1661T>C (p.Met554Thr) missense_variant Uncertain Significance 39.85 [23.06] ms 1 NA rs1584854609 7:150951758:G:A QTc KCNH2 UKBB c.1635C>T (p.Tyr545=) synonymous_variant Conflicting 40.48 [23.11] ms 1 0.0001801 rs200692436 7:150952556:C:T QTc KCNH2 UKBB c.1426G>A (p.Val476Ile) missense_variant Uncertain Significance 15.94 [16.32] ms 2 7.95E-06 rs199472908 7:150952792:C:T QTc KCNH2 UKBB c.1190G>A (p.Arg397His) missense_variant Uncertain Significance 13.73 [10.32] ms 5 1.59E-05 rs368817970 7:150957366:C:T QTc KCNH2 TOPMed c.1053G>A (p.Ser351=) synonymous_variant Uncertain Significance 27.45 [21.88] ms 1 8.07E-06 rs766203252 7:150957485:G:A QTc KCNH2 UKBB c.934C>T (p.Arg312Cys) missense_variant Conflicting 17.06 [16.33] ms 2 9.99E-05 rs199472885 7:150957485:G:A QTc KCNH2 TOPMed c.934C>T (p.Arg312Cys) missense_variant Conflicting 15.74 [15.52] ms 2 9.99E-05 rs199472885 7:150958103:A:G QTc KCNH2 UKBB c.872T>C (p.Met291Thr) missense_variant Uncertain Significance 22.85 [16.31] ms 2 NA rs199472881 7:150958110:C:T QTc KCNH2 UKBB c.865G>A (p.Glu289Lys) missense_variant Uncertain Significance 11.9 [5.96] ms 15 2.55E-04 rs199472880 7:150958122:C:T QTc KCNH2 UKBB c.853G>A (p.Ala285Thr) missense_variant Uncertain Significance 35.33 [23.07] ms 1 NA rs864622366 7:150958251:G:A QTc KCNH2 UKBB c.724C>T (p.Arg242Cys) missense_variant Uncertain Significance 16.96 [23.06] ms 1 1.79E-05 rs199472872 7:150958280:C:A QTc KCNH2 TOPMed c.695G>T (p.Arg232Leu) missense_variant Uncertain Significance 25.83 [21.87] ms 1 NA rs886039160 7:150958292:G:A QTc KCNH2 TOPMed c.683C>T (p.Ala228Val) missense_variant Uncertain Significance 15.47 [22.31] ms 1 NA rs1184559298 7:150958293:C:G QTc KCNH2 TOPMed c.682G>C (p.Ala228Pro) missense_variant Uncertain Significance 71.1 [22.32] ms 1 NA rs989191027 7:150958449:G:A QTc KCNH2 UKBB c.526C>T (p.Arg176Trp) missense_variant Conflicting 15.42 [5.04] ms 21 3.24E-04 rs36210422 7:150958449:G:A QTc KCNH2 TOPMed c.526C>T (p.Arg176Trp) missense_variant Conflicting 23.31 [4.91] ms 20 3.24E-04 rs36210422 7:150958484:C:T QTc KCNH2 UKBB c.491G>A (p.Arg164His) missense_variant Uncertain Significance 13.18 [10.32] ms 5 NA rs199472866 7:150958484:C:T QTc KCNH2 TOPMed c.491G>A (p.Arg164His) missense_variant Uncertain Significance 34.03 [21.86] ms 1 NA rs199472866 7:150959593:G:C QTc KCNH2 UKBB c.451C>G (p.Pro151Ala) missense_variant Uncertain Significance 20.7 [23.07] ms 1 NA rs1060500674 7:150959598:C:G QTc KCNH2 UKBB c.446G>C (p.Gly149Ala) missense_variant Uncertain Significance 13.99 [16.3] ms 2 2.79E-05 rs199472865 7:150959601:C:T QTc KCNH2 TOPMed c.443G>A (p.Arg148Gln) missense_variant Uncertain Significance 12.99 [11.13] ms 4 2.39E-05 rs374912424 7:150959613:T:A QTc KCNH2 TOPMed c.431A>T (p.Asp144Val) missense_variant Conflicting 23.13 [11.13] ms 4 3.19E-05 rs146284716 7:150959702:G:A QTc KCNH2 TOPMed c.342C>T (p.Pro114=) synonymous_variant Conflicting 28.94 [22.27] ms 1 0.0001591 rs532959204 7:150974830:G:T QTc KCNH2 TOPMed c.188C>A (p.Pro63His) missense_variant Conflicting 61 [22.33] ms 1 4.24E-06 rs766379103 7:44145576:G:A HbA1c GCK UKBB c.1174C>T (p.Arg392Cys) missense_variant Uncertain Significance 0.55 [0.28] (%) 3 NA rs1167124132 7:44145594:G:C HbA1c GCK FOURIER c.1156C>G (p.Leu386Val) missense_variant Uncertain Significance 0.96 [0.89] (%) 1 NA rs1583591700 7:44146531:G:C HbA1c GCK UKBB c.951C>G (p.His317Gln) missense_variant Uncertain Significance 0.78 [0.17] (%) 8 NA rs1379908545 7:44147765:G:A HbA1c GCK UKBB c.748C>T (p.Arg250Cys) missense_variant Conflicting 0.71 [0.28] (%) 3 NA rs1057524904 7:44151069:C:T HbA1c GCK UKBB c.370G>A (p.Asp124Asn) missense_variant Conflicting 0.6 [0.13] (%) 13 7.96E-06 rs759072800 7:44152421:G:A HbA1c GCK FOURIER c.213C>T (p.Val71=) synonymous_variant Conflicting 0.53 [0.89] (%) 1 0.0002387 rs143128547 7:44153322:G:A HbA1c GCK FOURIER c.187C>T (p.Arg63Cys) missense_variant Uncertain Significance 1.58 [0.63] (%) 2 1.59E-05 rs754479025 7:44153372:C:A HbA1c GCK UKBB c.137G>T (p.Arg46Met) missense_variant Uncertain Significance 0.65 [0.49] (%) 1 NA rs1064796993 1:55043870:G:A LDL-C PCSK9 UKBB c.235G>A (p.Val79Met) missense_variant Not In ClinVar 22.94 [30.43] mg/dL 1 1.20E-05 rs749049179 1:55043898:T:G LDL-C PCSK9 FOURIER c.263T>G (p.Leu88Arg) missense_variant Not In ClinVar 28.61 [27.5] mg/dL 1 NA NA 1:55046547:T:C LDL-C PCSK9 UKBB c.424T>C (p.Tyr142His) missense_variant Not In ClinVar 39.03 [30.46] mg/dL 1 NA NA 1:55052319:A:G LDL-C PCSK9 UKBB c.565A>G (p.Ile189Val) missense_variant Not In ClinVar 27.58 [30.46] mg/dL 1 NA NA 1:55052343:G:A LDL-C PCSK9 UKBB c.589G>A (p.Glu197Lys) missense_variant Not In ClinVar 50.89 [13.61] mg/dL 5 7.96E-06 rs772114791 1:55052353:T:C LDL-C PCSK9 UKBB c.599T>C (p.Val200Ala) missense_variant Not In ClinVar 37.22 [21.54] mg/dL 2 NA NA 1:55052380:C:T LDL-C PCSK9 UKBB c.626C>T (p.Pro209Leu) missense_variant Not In ClinVar 30.49 [30.47] mg/dL 1 NA rs1570301185 1:55052658:G:C LDL-C PCSK9 UKBB c.666G>C (p.Lys222Asn) missense_variant Not In ClinVar 36.64 [30.47] mg/dL 1 NA NA 1:55056012:A:C LDL-C PCSK9 UKBB c.819A>C (p.Lys273Asn) missense_variant Not In ClinVar 21.22 [30.46] mg/dL 1 NA rs1453038620 1:55056122:T:C LDL-C PCSK9 UKBB c.929T>C (p.Val310Ala) missense_variant Not In ClinVar 17.32 [30.46] mg/dL 1 NA NA 1:55056153:C:A LDL-C PCSK9 UKBB c.960C>A (p.Asp320Glu) missense_variant Not In ClinVar 45.62 [30.46] mg/dL 1 NA rs910368517 1:55057480:G:C LDL-C PCSK9 UKBB c.1146G>C (p.Gln382His) missense_variant Not In ClinVar 17.54 [30.46] mg/dL 1 NA NA 1:55058083:G:A LDL-C PCSK9 FOURIER c.1228G>A (p.Glu410Lys) missense_variant Not In ClinVar 26.14 [27.29] mg/dL 1 2.39E-05 rs746085210 1:55058570:C:A LDL-C PCSK9 UKBB c.1426C>A (p.Arg476Ser) missense_variant Not In ClinVar 20.93 [30.46] mg/dL 1 NA NA 1:55059501:C:G LDL-C PCSK9 UKBB c.1519C>G (p.Leu507Val) missense_variant Not In ClinVar 44.24 [21.54] mg/dL 2 NA NA 1:55059520:A:G LDL-C PCSK9 UKBB c.1538A>G (p.Asn513Ser) missense_variant Not In ClinVar 73.12 [30.46] mg/dL 1 5.70E-06 rs1243707941 1:55059528:G:C LDL-C PCSK9 UKBB c.1546G>C (p.Gly516Arg) missense_variant Not In ClinVar 28.53 [30.46] mg/dL 1 NA NA 1:55059538:G:A LDL-C PCSK9 UKBB c.1556G>A (p.Gly519Asp) missense_variant Not In ClinVar 28.1 [21.54] mg/dL 2 NA rs756504747 1:55059586:G:A LDL-C PCSK9 FOURIER c.1604G>A (p.Ser535Asn) missense_variant Not In ClinVar 93.64 [27.22] mg/dL 1 NA NA 1:55059642:C:A LDL-C PCSK9 UKBB c.1660C>A (p.Gln554Lys) missense_variant Not In ClinVar 50.69 [21.54] mg/dL 2 6.38E-06 rs149311926 1:55061434:C:T LDL-C PCSK9 UKBB c.1741C>T (p.Pro581Ser) missense_variant Not In ClinVar 27.32 [30.46] mg/dL 1 NA NA 1:55061443:C:G LDL-C PCSK9 UKBB c.1750C>G (p.Gln584Glu) missense_variant Not In ClinVar 22.83 [30.47] mg/dL 1 NA NA 1:55061498:A:G LDL-C PCSK9 UKBB c.1805A>G (p.His602Arg) missense_variant Not In ClinVar 49.97 [21.53] mg/dL 2 4.30E-06 rs1012875803 1:55061528:A:G LDL-C PCSK9 UKBB c.1835A>G (p.Glu612Gly) missense_variant Not In ClinVar 27.85 [30.46] mg/dL 1 8.76E-06 rs753062243 11:2445441:G:A QTc KCNQ1 TOPMed c.343G>A (p.Glu115Lys) missense_variant Not In ClinVar 52.64 [22.32] ms 1 NA rs794728553 11:2527935:A:C QTc KCNQ1 TOPMed c.394A>C (p.Ile132Leu) missense_variant Not In ClinVar 23.53 [21.88] ms 1 7.96E-06 rs199472684 11:2527977:G:A QTc KCNQ1 UKBB c.436G>A (p.Glu146Lys) missense_variant Not In ClinVar 12.8 [13.32] ms 3 7.96E-06 rs199472688 11:2570682:G:T QTc KCNQ1 UKBB c.532G>T (p.Ala178Ser) missense_variant Not In ClinVar 31.67 [23.05] ms 1 NA NA 11:2570707:G:T QTc KCNQ1 UKBB c.557G>T (p.Gly186Val) missense_variant Not In ClinVar 59.73 [23.06] ms 1 NA rs794728568 11:2571325:A:G QTc KCNQ1 TOPMed c.605A>G (p.Asp202Gly) missense_variant Not In ClinVar 19.85 [21.85] ms 1 NA rs794728569 11:2572027:T:C QTc KCNQ1 TOPMed c.698T>C (p.Leu233Pro) missense_variant Not In ClinVar 56.26 [22.34] ms 1 4.02E-06 rs780236727 11:2572973:T:TG QTc KCNQ1 TOPMed c.909dup (p.Trp304ValfsTer159) frameshift_variant Not In ClinVar 17.41 [22.28] ms 1 NA rs1280436861 11:2585276:G:A QTc KCNQ1 UKBB c.1097G>A (p.Arg366Gln) missense_variant Not In ClinVar 29.78 [23.06] ms 1 3.98E-06 rs199473410 11:2587583:G:A QTc KCNQ1 UKBB c.1142G>A (p.Cys381Tyr) missense_variant Not In ClinVar 22.99 [23.07] ms 1 1.19E-05 rs368507376 11:2661969:A:G QTc KCNQ1 UKBB c.1402A>G (p.Ser468Gly) missense_variant Not In ClinVar 16.43 [23.09] ms 1 7.95E-06 rs763931151 11:2662002:T:C QTc KCNQ1 UKBB c.1435T>C (p.Phe479Leu) missense_variant Not In ClinVar 18.52 [23.07] ms 1 NA NA 11:2662006:T:C QTc KCNQ1 UKBB c.1439T>C (p.Met480Thr) missense_variant Not In ClinVar 31.75 [23.07] ms 1 3.98E-06 rs967396850 11:2768848:C:T QTc KCNQ1 TOPMed c.1519C>T (p.Arg507Trp) missense_variant Not In ClinVar 16.3 [22.32] ms 1 NA rs767882075 11:2768867:C:T QTc KCNQ1 UKBB c.1538C>T (p.Thr513Ile) missense_variant Not In ClinVar 12.25 [23.07] ms 1 NA NA 12:120988996:A:G HbA1c HNF1A UKBB c.490A>G (p.Thr164Ala) missense_variant Not In ClinVar 0.34 [0.17] (%) 8 1.59E-05 rs772597940 12:120989008:C:T HbA1c HNF1A UKBB c.502C>T (p.Arg168Cys) missense_variant Not In ClinVar 0.37 [0.28] (%) 3 7.96E-06 rs764434453 12:120993591:C:T HbA1c HNF1A UKBB c.598C>T (p.Arg200Trp) missense_variant Not In ClinVar 1.79 [0.49] (%) 1 NA rs193922598 12:120993675:G:A HbA1c HNF1A UKBB c.682G>A (p.Glu228Lys) missense_variant Not In ClinVar 0.67 [0.49] (%) 1 3.98E-06 rs747416693 12:120993696:G:A HbA1c HNF1A UKBB c.703G>A (p.Glu235Lys) missense_variant Not In ClinVar 0.72 [0.49] (%) 1 NA NA 12:120994174:A:G HbA1c HNF1A UKBB c.724A>G (p.Ile242Val) missense_variant Not In ClinVar 0.39 [0.28] (%) 3 NA NA 12:120994231:G:A HbA1c HNF1A UKBB c.781G>A (p.Glu261Lys) missense_variant Not In ClinVar 0.72 [0.49] (%) 1 NA NA 12:120994355:A:T HbA1c HNF1A UKBB c.905A>T (p.His302Leu) missense_variant Not In ClinVar 0.85 [0.24] (%) 4 NA NA 12:120994363:C:A HbA1c HNF1A FOURIER c.913C>A (p.Pro305Thr) missense_variant Not In ClinVar 2.1 [0.89] (%) 1 NA rs1250206737 12:120996553:G:A HbA1c HNF1A UKBB c.1120G>A (p.Gly374Arg) missense_variant Not In ClinVar 0.74 [0.49] (%) 1 NA rs1288957417 12:120996601:G:A HbA1c HNF1A UKBB c.1168G>A (p.Glu390Lys) missense_variant Not In ClinVar 0.5 [0.49] (%) 1 NA NA 12:120996644:T:C HbA1c HNF1A UKBB c.1211T>C (p.Ile404Thr) missense_variant Not In ClinVar 0.33 [0.28] (%) 3 3.98E-06 rs1204512745 12:120996647:T:C HbA1c HNF1A UKBB c.1214T>C (p.Met405Thr) missense_variant Not In ClinVar 0.39 [0.49] (%) 1 NA NA 12:120996662:G:C HbA1c HNF1A UKBB c.1229G>C (p.Gly410Ala) missense_variant Not In ClinVar 0.46 [0.49] (%) 1 NA rs1471388846 12:120996725:C:A HbA1c HNF1A UKBB c.1292C>A (p.Ala431Asp) missense_variant Not In ClinVar 0.32 [0.49] (%) 1 NA NA 12:120997521:G:GGCA HbA1c HNF1A UKBB c.1363_1365dup (p.Ser455dup) inframe_insertion Not In ClinVar 0.47 [0.34] (%) 2 8.00E-06 rs762045412 12:120997548:G:A HbA1c HNF1A FOURIER c.1384G>A (p.Val462Ile) missense_variant Not In ClinVar 2.34 [0.89] (%) 1 2.00E-05 rs762446965 12:120997564:C:T HbA1c HNF1A FOURIER c.1400C>T (p.Pro467Leu) missense_variant Not In ClinVar 0.61 [0.89] (%) 1 1.60E-05 rs764483607 12:120999277:G:A HbA1c HNF1A FOURIER c.1511G>A (p.Ser504Asn) missense_variant Not In ClinVar 0.48 [0.89] (%) 1 NA NA 12:120999297:C:G HbA1c HNF1A UKBB c.1531C>G (p.Gln511Glu) missense_variant Not In ClinVar 0.71 [0.49] (%) 1 1.99E-05 rs551484245 12:120999318:C:G HbA1c HNF1A UKBB c.1552C>G (p.Leu518Val) missense_variant Not In ClinVar 0.37 [0.49] (%) 1 NA NA 12:120999582:A:C HbA1c HNF1A UKBB c.1723A>C (p.Ile575Leu) missense_variant Not In ClinVar 0.48 [0.34] (%) 2 NA NA 12:120999583:T:A HbA1c HNF1A UKBB c.1724T>A (p.Ile575Asn) missense_variant Not In ClinVar 0.95 [0.34] (%) 2 2.06E-05 rs577273696 17:37699098:G:A HbA1c HNF1B UKBB c.1631C>T (p.Thr544Ile) missense_variant Not In ClinVar 0.38 [0.49] (%) 1 3.98E-06 rs185404250 17:37699123:CTG:C HbA1c HNF1B UKBB c.1604_1605del (p.Thr535ArgfsTer15) frameshift_variant Not In ClinVar 0.43 [0.49] (%) 1 NA NA 17:37699173:G:T HbA1c HNF1B UKBB c.1556C>A (p.Pro519His) missense_variant Not In ClinVar 3.07 [0.49] (%) 1 7.95E-06 rs745416273 17:37700995:G:C HbA1c HNF1B FOURIER c.1522C>G (p.Gln508Glu) missense_variant Not In ClinVar 0.43 [0.89] (%) 1 NA rs1463022786 17:37701075:G:A HbA1c HNF1B UKBB c.1442C>T (p.Pro481Leu) missense_variant Not In ClinVar 0.88 [0.49] (%) 1 NA rs1471879582 17:37701078:C:T HbA1c HNF1B UKBB c.1439G>A (p.Ser480Asn) missense_variant Not In ClinVar 3.68 [0.49] (%) 1 NA rs1327364359 17:37701142:T:C HbA1c HNF1B UKBB c.1375A>G (p.Ile459Val) missense_variant Not In ClinVar 0.49 [0.48] (%) 1 6.31E-06 rs950617131 17:37701175:G:A HbA1c HNF1B UKBB c.1342C>T (p.Leu448Phe) missense_variant Not In ClinVar 0.59 [0.49] (%) 1 NA rs1407464454 17:37705021:G:C HbA1c HNF1B UKBB c.1235C>G (p.Pro412Arg) missense_variant Not In ClinVar 0.56 [0.49] (%) 1 NA NA 17:37710510:C:G HbA1c HNF1B FOURIER c.1199G>C (p.Gly400Ala) missense_variant Not In ClinVar 0.5 [0.89] (%) 1 3.98E-06 rs1252021904 17:37710555:G:A HbA1c HNF1B UKBB c.1154C>T (p.Ser385Phe) missense_variant Not In ClinVar 0.44 [0.49] (%) 1 NA NA 17:37710556:A:T HbA1c HNF1B UKBB c.1153T>A (p.Ser385Thr) missense_variant Not In ClinVar 0.31 [0.49] (%) 1 NA NA 17:37710582:G:A HbA1c HNF1B UKBB c.1127C>T (p.Thr376Ile) missense_variant Not In ClinVar 0.73 [0.49] (%) 1 5.26E-05 rs749391290 17:37731663:A:G HbA1c HNF1B FOURIER c.977T>C (p.Leu326Pro) missense_variant Not In ClinVar 0.59 [0.89] (%) 1 NA NA 17:37731674:C:G HbA1c HNF1B FOURIER c.966G>C (p.Gln322His) missense_variant Not In ClinVar 1.84 [0.89] (%) 1 NA NA 17:37731675:T:G HbA1c HNF1B UKBB c.965A>C (p.Gln322Pro) missense_variant Not In ClinVar 0.41 [0.49] (%) 1 NA NA 17:37731733:G:A HbA1c HNF1B UKBB c.907C>T (p.Arg303Cys) missense_variant Not In ClinVar 0.52 [0.49] (%) 1 NA NA 17:37731742:A:G HbA1c HNF1B UKBB c.898T>C (p.Phe300Leu) missense_variant Not In ClinVar 0.69 [0.49] (%) 1 NA NA 17:37731770:C:A HbA1c HNF1B UKBB c.870G>T (p.Leu290Phe) missense_variant Not In ClinVar 1.34 [0.49] (%) 1 NA NA 17:37733580:C:A HbA1c HNF1B UKBB c.786G>T (p.Glu262Asp) missense_variant Not In ClinVar 0.5 [0.49] (%) 1 NA NA 17:37733644:G:A HbA1c HNF1B UKBB c.722C>T (p.Ala241Val) missense_variant Not In ClinVar 0.43 [0.34] (%) 2 7.95E-06 rs773961869 17:37739491:G:A HbA1c HNF1B UKBB c.493C>T (p.Arg165Cys) missense_variant Not In ClinVar 0.32 [0.49] (%) 1 NA NA 17:37739563:C:T HbA1c HNF1B UKBB c.421G>A (p.Asp141Asn) missense_variant Not In ClinVar 1.6 [0.49] (%) 1 NA rs866277746 19:11100261:G:C LDL-C LDLR UKBB c.106G>C (p.Asp36His) missense_variant Not In ClinVar 54.01 [30.46] mg/dL 1 NA NA 19:11100272:CA:C LDL-C LDLR UKBB c.118del (p.Ile40SerfsTer166) frameshift_variant Not In ClinVar 26.22 [30.46] mg/dL 1 NA rs879254413 19:11100328:A:T LDL-C LDLR UKBB c.173A>T (p.Glu58Val) missense_variant Not In ClinVar 43.91 [30.46] mg/dL 1 NA NA 19:11102747:C:G LDL-C LDLR UKBB c.274C>G (p.Gln92Glu) missense_variant Not In ClinVar 93.87 [30.46] mg/dL 1 3.98E-06 rs774467219 19:11102757:G:A LDL-C LDLR FOURIER c.284G>A (p.Cys95Tyr) missense_variant Not In ClinVar 43.42 [27.39] mg/dL 1 NA rs879254457 19:11102758:C:A LDL-C LDLR FOURIER c.285C>A (p.Cys95Ter) stop_gained Not In ClinVar 66.03 [27.44] mg/dL 1 NA rs139400379 19:11105268:G:T LDL-C LDLR UKBB c.362G>T (p.Cys121Phe) missense_variant Not In ClinVar 43.05 [21.54] mg/dL 2 NA rs193922571 19:11105299:C:G LDL-C LDLR UKBB c.393C>G (p.Asp131Glu) missense_variant Not In ClinVar 58.29 [30.42] mg/dL 1 NA NA 19:11105300:C:T LDL-C LDLR UKBB c.394C>T (p.Arg132Trp) missense_variant Not In ClinVar 46.27 [21.54] mg/dL 2 3.98E-06 rs368978979 19:11105309:T:G LDL-C LDLR UKBB c.403T>G (p.Leu135Val) missense_variant Not In ClinVar 57.71 [30.46] mg/dL 1 NA NA 19:11105318:TCAGA:T LDL-C LDLR FOURIER c.414_417del (p.Asp139ArgfsTer66) frameshift_variant Not In ClinVar 140.27 [27.3] mg/dL 1 NA NA 19:11105325:A:G LDL-C LDLR FOURIER c.419A>G (p.Glu140Gly) missense_variant Not In ClinVar 88.6 [27.26] mg/dL 1 NA rs879254519 19:11105334:G:GC LDL-C LDLR FOURIER c.431dup (p.Val145GlyfsTer35) frameshift_variant Not In ClinVar 52.17 [27.49] mg/dL 1 NA NA 19:11105337:C:T LDL-C LDLR UKBB c.431C>T (p.Pro144Leu) missense_variant Not In ClinVar 71.68 [30.46] mg/dL 1 NA rs912448894 19:11105339:GTGCTCACCTGTGGTCCCGCCAGC:G LDL-C LDLR UKBB c.435_457del (p.Leu146ProfsTer26) frameshift_variant Not In ClinVar 24.79 [30.46] mg/dL 1 NA NA 19:11105363:T:C LDL-C LDLR UKBB c.457T>C (p.Phe153Leu) missense_variant Not In ClinVar 50.58 [30.46] mg/dL 1 NA NA 19:11105415:A:G LDL-C LDLR UKBB c.509A>G (p.Asp170Gly) missense_variant Not In ClinVar 94.59 [30.46] mg/dL 1 3.98E-06 rs533896621 19:11105431:T:TGGCTCGGA LDL-C LDLR FOURIER c.526_533dup (p.Asp178GlufsTer31) frameshift_variant Not In ClinVar 48.77 [27.49] mg/dL 1 NA rs879254562 19:11105448:C:T LDL-C LDLR UKBB c.542C>T (p.Pro181Leu) missense_variant Not In ClinVar 32.57 [21.28] mg/dL 2 7.96E-06 rs557344672 19:11105448:C:T LDL-C LDLR FOURIER c.542C>T (p.Pro181Leu) missense_variant Not In ClinVar 74.12 [27.32] mg/dL 1 7.96E-06 rs557344672 19:11105485:C:G LDL-C LDLR UKBB c.579C>G (p.Asp193Glu) missense_variant Not In ClinVar 28.3 [30.46] mg/dL 1 NA NA 19:11106593:C:A LDL-C LDLR UKBB c.723C>A (p.Phe241Leu) missense_variant Not In ClinVar 55.86 [21.54] mg/dL 2 NA NA 19:11106610:A:G LDL-C LDLR UKBB c.740A>G (p.Asn247Ser) missense_variant Not In ClinVar 20.56 [15.22] mg/dL 4 NA NA 19:11106612:T:G LDL-C LDLR FOURIER c.742T>G (p.Cys248Gly) missense_variant Not In ClinVar 52.67 [27.33] mg/dL 1 NA rs879254662 19:11106680:C:A LDL-C LDLR FOURIER c.810C>A (p.Cys270Ter) stop_gained Not In ClinVar 35.81 [27.23] mg/dL 1 NA rs773328511 19:11107395:C:A LDL-C LDLR UKBB c.821C>A (p.Thr274Lys) missense_variant Not In ClinVar 31.08 [17.59] mg/dL 3 1.59E-05 rs781306850 19:11107455:A:G LDL-C LDLR UKBB c.881A>G (p.Lys294Arg) missense_variant Not In ClinVar 20.25 [30.46] mg/dL 1 3.98E-06 rs775843217 19:11107457:G:A LDL-C LDLR UKBB c.883G>A (p.Val295Ile) missense_variant Not In ClinVar 20.14 [30.46] mg/dL 1 NA NA 19:11107466:A:G LDL-C LDLR UKBB c.892A>G (p.Met298Val) missense_variant Not In ClinVar 23.38 [30.46] mg/dL 1 1.19E-05 rs730882092 19:11107477:C:A LDL-C LDLR UKBB c.903C>A (p.Asp301Glu) missense_variant Not In ClinVar 35.32 [30.46] mg/dL 1 NA NA 19:11107493:G:C LDL-C LDLR UKBB c.919G>C (p.Asp307His) missense_variant Not In ClinVar 62.69 [30.47] mg/dL 1 NA rs879254719 19:11107499:C:G LDL-C LDLR UKBB c.925C>G (p.Pro309Ala) missense_variant Not In ClinVar 57.57 [30.46] mg/dL 1 NA NA 19:11107506:A:C LDL-C LDLR UKBB c.932A>C (p.Lys311Thr) missense_variant Not In ClinVar 42.38 [6.64] mg/dL 21 NA rs761765254 19:11111586:A:G LDL-C LDLR UKBB c.1133A>G (p.Gln378Arg) missense_variant Not In ClinVar 35.72 [30.46] mg/dL 1 NA NA 19:11113295:TTC:T LDL-C LDLR UKBB c.1206_1207del (p.Phe403HisfsTer37) frameshift_variant Not In ClinVar 99.76 [30.46] mg/dL 1 NA rs879254829 19:11113315:G:C LDL-C LDLR UKBB c.1224G>C (p.Glu408Asp) missense_variant Not In ClinVar 23.16 [30.46] mg/dL 1 NA rs142319510 19:11113316:G:A LDL-C LDLR FOURIER c.1225G>A (p.Val409Ile) missense_variant Not In ClinVar 60.4 [27.34] mg/dL 1 3.98E-06 rs1324865629 19:11113355:C:G LDL-C LDLR UKBB c.1264C>G (p.Leu422Val) missense_variant Not In ClinVar 47.57 [30.41] mg/dL 1 NA NA 19:11113362:C:T LDL-C LDLR UKBB c.1271C>T (p.Pro424Leu) missense_variant Not In ClinVar 25.52 [17.58] mg/dL 3 NA rs868801795 19:11113374:A:C LDL-C LDLR UKBB c.1283A>C (p.Asn428Thr) missense_variant Not In ClinVar 40.95 [22.68] mg/dL 2 NA NA 19:11113409:A:G LDL-C LDLR UKBB c.1318A>G (p.Arg440Gly) missense_variant Not In ClinVar 62.52 [15.22] mg/dL 4 NA rs879254861 19:11113426:C:A LDL-C LDLR UKBB c.1335C>A (p.Asp445Glu) missense_variant Not In ClinVar 145.35 [30.46] mg/dL 1 1.59E-05 rs749780672 19:11113557:G:T LDL-C LDLR UKBB c.1381G>T (p.Gly461Cys) missense_variant Not In ClinVar 85.37 [30.48] mg/dL 1 7.97E-06 rs193922568 19:11113576:C:T LDL-C LDLR UKBB c.1400C>T (p.Thr467Ile) missense_variant Not In ClinVar 17.47 [17.58] mg/dL 3 3.98E-06 rs754411636 19:11113625:G:T LDL-C LDLR UKBB c.1449G>T (p.Trp483Cys) missense_variant Not In ClinVar 30.28 [30.43] mg/dL 1 NA rs879254907 19:11113753:C:T LDL-C LDLR FOURIER c.1577C>T (p.Pro526Leu) missense_variant Not In ClinVar 23.77 [27.08] mg/dL 1 NA rs879254944 19:11113762:G:T LDL-C LDLR UKBB c.1586G>T (p.Gly529Val) missense_variant Not In ClinVar 196.58 [30.45] mg/dL 1 NA NA 19:11116099:T:A LDL-C LDLR FOURIER c.1592T>A (p.Met531Lys) missense_variant Not In ClinVar 26.43 [19.3] mg/dL 2 1.19E-05 rs779913921 19:11116100:G:A LDL-C LDLR UKBB c.1593G>A (p.Met531Ile) missense_variant Not In ClinVar 79.56 [30.46] mg/dL 1 NA NA 19:11116114:G:A LDL-C LDLR UKBB c.1607G>A (p.Trp536Ter) stop_gained Not In ClinVar 111.96 [30.46] mg/dL 1 NA rs879254957 19:11116132:T:A LDL-C LDLR UKBB c.1625T>A (p.Ile542Asn) missense_variant Not In ClinVar 95.67 [30.46] mg/dL 1 NA NA 19:11116139:AG:A LDL-C LDLR UKBB c.1637del (p.Gly546AlafsTer2) frameshift_variant Not In ClinVar 65.64 [30.38] mg/dL 1 NA NA 19:11116193:G:T LDL-C LDLR UKBB c.1686G>T (p.Trp562Cys) missense_variant Not In ClinVar 177.62 [30.46] mg/dL 1 NA NA 19:11116861:C:A LDL-C LDLR UKBB c.1708C>A (p.Leu570Ile) missense_variant Not In ClinVar 34.67 [13.62] mg/dL 5 NA NA 19:11116885:G:A LDL-C LDLR UKBB c.1732G>A (p.Val578Ile) missense_variant Not In ClinVar 52.08 [21.54] mg/dL 2 NA rs1301458707 19:11116891:T:A LDL-C LDLR UKBB c.1738T>A (p.Ser580Thr) missense_variant Not In ClinVar 39.56 [30.46] mg/dL 1 NA NA 19:11116904:C:T LDL-C LDLR UKBB c.1751C>T (p.Ser584Phe) missense_variant Not In ClinVar 100.36 [30.46] mg/dL 1 3.98E-06 rs752589590 19:11116940:A:G LDL-C LDLR UKBB c.1787A>G (p.Lys596Arg) missense_variant Not In ClinVar 56.7 [30.46] mg/dL 1 3.98E-06 rs752496012 19:11116970:C:A LDL-C LDLR UKBB c.1817C>A (p.Ala606Asp) missense_variant Not In ClinVar 22.41 [6.74] mg/dL 21 1.19E-05 rs1410295777 19:11120110:GAT:G LDL-C LDLR UKBB c.1867_1868del (p.Ile623HisfsTer21) frameshift_variant Not In ClinVar 38.44 [30.46] mg/dL 1 NA rs879255061 19:11120135:G:C LDL-C LDLR UKBB c.1889G>C (p.Ser630Thr) missense_variant Not In ClinVar 50.52 [30.46] mg/dL 1 NA NA 19:11120143:C:A LDL-C LDLR UKBB c.1897C>A (p.Arg633Ser) missense_variant Not In ClinVar 86.8 [30.46] mg/dL 1 NA NA 19:11120221:AC:A LDL-C LDLR FOURIER c.1978del (p.Gln660SerfsTer5) frameshift_variant Not In ClinVar 50.93 [27.11] mg/dL 1 NA NA 19:11120408:G:C LDL-C LDLR UKBB c.2026G>C (p.Gly676Arg) missense_variant Not In ClinVar 49.65 [30.47] mg/dL 1 3.99E-06 rs745753810 19:11120501:G:C LDL-C LDLR FOURIER c.2119G>C (p.Asp707His) missense_variant Not In ClinVar 54.08 [27.3] mg/dL 1 NA NA 19:11120505:T:G LDL-C LDLR UKBB c.2123T>G (p.Met708Arg) missense_variant Not In ClinVar 31.98 [30.46] mg/dL 1 3.99E-06 rs373839317 19:11120520:C:T LDL-C LDLR UKBB c.2138C>T (p.Thr713Ile) missense_variant Not In ClinVar 39.05 [30.46] mg/dL 1 NA rs1218776502 19:11123200:G:A LDL-C LDLR UKBB c.2167G>A (p.Glu723Lys) missense_variant Not In ClinVar 40.76 [30.46] mg/dL 1 NA NA 19:11123201:A:G LDL-C LDLR UKBB c.2168A>G (p.Glu723Gly) missense_variant Not In ClinVar 23.51 [30.46] mg/dL 1 3.98E-06 rs1313468251 19:11123266:C:T LDL-C LDLR UKBB c.2233C>T (p.Pro745Ser) missense_variant Not In ClinVar 90.07 [30.46] mg/dL 1 NA rs1013991512 19:11123322:G:GAT LDL-C LDLR FOURIER c.2291_2292dup (p.Val765Ter) frameshift_variant Not In ClinVar 108.93 [27.47] mg/dL 1 NA NA 19:11128027:C:CA LDL-C LDLR UKBB c.2332dup (p.Arg778LysfsTer4) frameshift_variant Not In ClinVar 30.43 [30.46] mg/dL 1 NA NA 19:11128051:T:G LDL-C LDLR UKBB c.2355T>G (p.Ser785Arg) missense_variant Not In ClinVar 45.68 [20.88] mg/dL 2 NA rs756895842 19:11128062:C:A LDL-C LDLR UKBB c.2366C>A (p.Ala789Asp) missense_variant Not In ClinVar 34.93 [30.46] mg/dL 1 NA rs1286799492 19:11129582:G:A LDL-C LDLR UKBB c.2459G>A (p.Ser820Asn) missense_variant Not In ClinVar 27.08 [30.46] mg/dL 1 NA NA 19:11129627:A:C LDL-C LDLR UKBB c.2504A>C (p.Glu835Ala) missense_variant Not In ClinVar 29.16 [30.47] mg/dL 1 3.98E-06 rs760910475 19:11129660:G:A LDL-C LDLR UKBB c.2537G>A (p.Ser846Asn) missense_variant Not In ClinVar 53.63 [30.46] mg/dL 1 NA rs1275820356 2:21004294:T:C LDL-C APOB UKBB c.12062A>G (p.Lys4021Arg) missense_variant Not In ClinVar 46.5 [30.46] mg/dL 1 NA NA 2:21004345:G:A LDL-C APOB UKBB c.12011C>T (p.Pro4004Leu) missense_variant Not In ClinVar 20.18 [21.54] mg/dL 2 NA NA 2:21004411:G:T LDL-C APOB UKBB c.11945C>A (p.Ala3982Glu) missense_variant Not In ClinVar 46.6 [30.46] mg/dL 1 NA NA 2:21004451:C:T LDL-C APOB FOURIER c.11905G>A (p.Glu3969Lys) missense_variant Not In ClinVar 41.76 [27.4] mg/dL 1 3.98E-06 rs1466304592 2:21004561:T:G LDL-C APOB UKBB c.11903A>C (p.Gln3968Pro) missense_variant Not In ClinVar 27.31 [30.46] mg/dL 1 NA NA 2:21005104:G:C LDL-C APOB UKBB c.11764C>G (p.Gln3922Glu) missense_variant Not In ClinVar 62.15 [30.46] mg/dL 1 3.98E-06 rs778476070 2:21005154:T:C LDL-C APOB UKBB c.11714A>G (p.Lys3905Arg) missense_variant Not In ClinVar 54.34 [30.46] mg/dL 1 NA NA 2:21005530:C:A LDL-C APOB UKBB c.11338G>T (p.Ala3780Ser) missense_variant Not In ClinVar 33.07 [30.46] mg/dL 1 1.20E-05 rs781430883 2:21005532:AATG:A LDL-C APOB UKBB c.11333_11335del (p.Ser3778del) inframe_deletion Not In ClinVar 20.27 [21.54] mg/dL 2 NA NA 2:21005536:A:G LDL-C APOB UKBB c.11332T>C (p.Ser3778Pro) missense_variant Not In ClinVar 22.22 [12.4] mg/dL 6 1.20E-05 rs1487998575 2:21005541:G:A LDL-C APOB FOURIER c.11327C>T (p.Thr3776Ile) missense_variant Not In ClinVar 22.81 [27.44] mg/dL 1 NA NA 2:21005596:C:T LDL-C APOB UKBB c.11272G>A (p.Val3758Ile) missense_variant Not In ClinVar 31.6 [30.47] mg/dL 1 7.97E-06 rs781117588 2:21005596:C:T LDL-C APOB FOURIER c.11272G>A (p.Val3758Ile) missense_variant Not In ClinVar 23.31 [27.46] mg/dL 1 7.97E-06 rs781117588 2:21005790:G:T LDL-C APOB FOURIER c.11078C>A (p.Thr3693Asn) missense_variant Not In ClinVar 40.53 [27.35] mg/dL 1 1.20E-05 rs776068398 2:21005819:G:T LDL-C APOB UKBB c.11049C>A (p.Ser3683Arg) missense_variant Not In ClinVar 32.07 [30.46] mg/dL 1 NA NA 2:21005820:C:A LDL-C APOB UKBB c.11048G>T (p.Ser3683Ile) missense_variant Not In ClinVar 27.52 [23.63] mg/dL 2 NA rs944488308 2:21005901:T:A LDL-C APOB FOURIER c.10967A>T (p.Lys3656Met) missense_variant Not In ClinVar 51 [27.45] mg/dL 1 NA NA 2:21005956:G:A LDL-C APOB UKBB c.10912C>T (p.Arg3638Trp) missense_variant Not In ClinVar 24.62 [30.46] mg/dL 1 5.19E-05 rs61744151 2:21005978:C:G LDL-C APOB UKBB c.10890G>C (p.Lys3630Asn) missense_variant Not In ClinVar 43.07 [30.46] mg/dL 1 3.99E-06 rs768105768 2:21005991:G:A LDL-C APOB UKBB c.10877C>T (p.Thr3626Ile) missense_variant Not In ClinVar 31.21 [21.57] mg/dL 2 NA NA 2:21006007:C:A LDL-C APOB FOURIER c.10861G>T (p.Ala3621Ser) missense_variant Not In ClinVar 20.68 [27.12] mg/dL 1 3.98E-06 rs373995960 2:21006018:C:T LDL-C APOB UKBB c.10850G>A (p.Gly3617Asp) missense_variant Not In ClinVar 16.82 [30.44] mg/dL 1 3.98E-06 rs139329252 2:21006070:C:A LDL-C APOB UKBB c.10798G>T (p.Val3600Phe) missense_variant Not In ClinVar 55.18 [21.54] mg/dL 2 7.97E-06 rs766749418 2:21006093:G:A LDL-C APOB UKBB c.10775C>T (p.Ser3592Phe) missense_variant Not In ClinVar 21.73 [17.58] mg/dL 3 NA NA 2:21006165:T:C LDL-C APOB UKBB c.10703A>G (p.Lys3568Arg) missense_variant Not In ClinVar 69.26 [30.46] mg/dL 1 NA NA 2:21006198:T:TGGA LDL-C APOB UKBB c.10667_10669dup (p.Leu3556dup) inframe_insertion Not In ClinVar 17.68 [30.46] mg/dL 1 NA NA 2:21006208:C:T LDL-C APOB UKBB c.10660G>A (p.Ala3554Thr) missense_variant Not In ClinVar 33.27 [17.58] mg/dL 3 NA NA 2:21006391:C:T LDL-C APOB UKBB c.10477G>A (p.Glu3493Lys) missense_variant Not In ClinVar 52.03 [9.18] mg/dL 11 3.99E-06 rs1251501652 2:21006438:A:G LDL-C APOB UKBB c.10430T>C (p.Val3477Ala) missense_variant Not In ClinVar 17.12 [30.48] mg/dL 1 NA rs190114930 2:21006471:G:T LDL-C APOB UKBB c.10397C>A (p.Ser3466Tyr) missense_variant Not In ClinVar 38.63 [21.51] mg/dL 2 NA NA 2:21006513:G:C LDL-C APOB UKBB c.10355C>G (p.Pro3452Arg) missense_variant Not In ClinVar 45.08 [30.46] mg/dL 1 3.99E-06 rs140647761 2:21006585:G:A LDL-C APOB UKBB c.10283C>T (p.Thr3428Ile) missense_variant Not In ClinVar 17.93 [15.23] mg/dL 4 3.98E-06 rs764056784 2:21006603:T:C LDL-C APOB UKBB c.10265A>G (p.Glu3422Gly) missense_variant Not In ClinVar 16.76 [30.47] mg/dL 1 3.98E-06 rs747264737 2:21006607:T:C LDL-C APOB UKBB c.10261A>G (p.Met3421Val) missense_variant Not In ClinVar 39.79 [30.46] mg/dL 1 3.98E-06 rs1371028457 2:21006622:A:T LDL-C APOB UKBB c.10246T>A (p.Leu3416Ile) missense_variant Not In ClinVar 29.28 [30.46] mg/dL 1 NA NA 2:21006642:C:T LDL-C APOB UKBB c.10226G>A (p.Ser3409Asn) missense_variant Not In ClinVar 33.31 [21.54] mg/dL 2 5.57E-05 rs759254655 2:21006654:A:G LDL-C APOB UKBB c.10214T>C (p.Phe3405Ser) missense_variant Not In ClinVar 25.86 [30.46] mg/dL 1 1.19E-05 rs1426386080 2:21006655:A:C LDL-C APOB UKBB c.10213T>G (p.Phe3405Val) missense_variant Not In ClinVar 28.3 [30.39] mg/dL 1 NA NA 2:21006675:G:A LDL-C APOB UKBB c.10193C>T (p.Ala3398Val) missense_variant Not In ClinVar 58.31 [21.54] mg/dL 2 NA rs1367798781 2:21006688:T:C LDL-C APOB FOURIER c.10180A>G (p.Lys3394Glu) missense_variant Not In ClinVar 40.8 [27.23] mg/dL 1 NA NA 2:21006696:C:G LDL-C APOB UKBB c.10172G>C (p.Arg3391Thr) missense_variant Not In ClinVar 19.24 [21.53] mg/dL 2 NA NA 2:21006714:G:T LDL-C APOB UKBB c.10154C>A (p.Thr3385Lys) missense_variant Not In ClinVar 18.61 [6.99] mg/dL 19 3.99E-06 rs1259653196 2:21006754:A:C LDL-C APOB UKBB c.10114T>G (p.Ser3372Ala) missense_variant Not In ClinVar 17.93 [21.54] mg/dL 2 1.99E-05 rs138850232 2:21006778:C:T LDL-C APOB UKBB c.10090G>A (p.Ala3364Thr) missense_variant Not In ClinVar 24.34 [21.54] mg/dL 2 NA NA 2:21006792:T:A LDL-C APOB FOURIER c.10076A>T (p.Gln3359Leu) missense_variant Not In ClinVar 40.79 [27.66] mg/dL 1 NA rs1028646792 2:21006815:A:T LDL-C APOB FOURIER c.10053T>A (p.Asn3351Lys) missense_variant Not In ClinVar 50.02 [27.44] mg/dL 1 NA NA 2:21007038:G:A LDL-C APOB UKBB c.9830C>T (p.Ala3277Val) missense_variant Not In ClinVar 19.07 [30.46] mg/dL 1 NA rs907962079 2:21007105:C:T LDL-C APOB UKBB c.9763G>A (p.Val3255Ile) missense_variant Not In ClinVar 20.11 [15.16] mg/dL 4 NA NA 2:21007119:C:T LDL-C APOB UKBB c.9749G>A (p.Gly3250Glu) missense_variant Not In ClinVar 20.51 [30.46] mg/dL 1 NA NA 2:21007152:T:G LDL-C APOB UKBB c.9716A>C (p.His3239Pro) missense_variant Not In ClinVar 120.7 [30.46] mg/dL 1 NA NA 2:21007175:A:C LDL-C APOB UKBB c.9693T>G (p.Asp3231Glu) missense_variant Not In ClinVar 126.06 [30.46] mg/dL 1 NA NA 2:21007200:T:C LDL-C APOB UKBB c.9668A>G (p.Tyr3223Cys) missense_variant Not In ClinVar 27.49 [30.52] mg/dL 1 NA NA 2:21007290:A:C LDL-C APOB UKBB c.9578T>G (p.Leu3193Arg) missense_variant Not In ClinVar 26.03 [30.46] mg/dL 1 NA NA 2:21007308:G:T LDL-C APOB UKBB c.9560C>A (p.Thr3187Lys) missense_variant Not In ClinVar 88 [30.46] mg/dL 1 NA NA 2:21007323:T:C LDL-C APOB FOURIER c.9545A>G (p.His3182Arg) missense_variant Not In ClinVar 18.4 [27.09] mg/dL 1 NA rs1201059427 2:21007345:C:G LDL-C APOB UKBB c.9523G>C (p.Ala3175Pro) missense_variant Not In ClinVar 46.04 [30.46] mg/dL 1 1.59E-05 rs200584734 2:21007368:T:G LDL-C APOB UKBB c.9500A>C (p.Gln3167Pro) missense_variant Not In ClinVar 19.31 [30.46] mg/dL 1 3.98E-06 rs765018719 2:21007374:G:C LDL-C APOB UKBB c.9494C>G (p.Thr3165Arg) missense_variant Not In ClinVar 45.33 [30.46] mg/dL 1 NA NA 2:21007380:T:G LDL-C APOB UKBB c.9488A>C (p.Lys3163Thr) missense_variant Not In ClinVar 21.88 [21.54] mg/dL 2 1.99E-05 rs777931926 2:21007416:G:C LDL-C APOB UKBB c.9452C>G (p.Ser3151Cys) missense_variant Not In ClinVar 31.71 [30.46] mg/dL 1 7.97E-06 rs560928668 2:21007423:C:G LDL-C APOB UKBB c.9445G>C (p.Asp3149His) missense_variant Not In ClinVar 31.73 [21.54] mg/dL 2 NA NA 2:21007438:T:A LDL-C APOB UKBB c.9430A>T (p.Thr3144Ser) missense_variant Not In ClinVar 27.2 [22.69] mg/dL 2 NA NA 2:21007488:T:A LDL-C APOB UKBB c.9380A>T (p.Asn3127Ile) missense_variant Not In ClinVar 18.76 [17.57] mg/dL 3 NA NA 2:21007521:C:T LDL-C APOB UKBB c.9347G>A (p.Gly3116Glu) missense_variant Not In ClinVar 44.89 [30.46] mg/dL 1 NA rs866364156 2:21007575:T:C LDL-C APOB UKBB c.9293A>G (p.Tyr3098Cys) missense_variant Not In ClinVar 33.08 [21.54] mg/dL 2 3.98E-06 rs375936466 2:21007581:T:C LDL-C APOB UKBB c.9287A>G (p.Tyr3096Cys) missense_variant Not In ClinVar 29.34 [10.77] mg/dL 8 7.97E-06 rs1267070362 2:21007656:A:T LDL-C APOB UKBB c.9212T>A (p.Leu3071Gln) missense_variant Not In ClinVar 22.6 [30.46] mg/dL 1 NA NA 2:21007696:C:T LDL-C APOB UKBB c.9172G>A (p.Val3058Ile) missense_variant Not In ClinVar 26.8 [30.46] mg/dL 1 NA NA 2:21007762:A:G LDL-C APOB UKBB c.9106T>C (p.Ser3036Pro) missense_variant Not In ClinVar 63.96 [30.46] mg/dL 1 NA NA 2:21007808:C:A LDL-C APOB FOURIER c.9060G>T (p.Arg3020Ser) missense_variant Not In ClinVar 26.29 [27.29] mg/dL 1 NA NA 2:21007846:C:T LDL-C APOB UKBB c.9022G>A (p.Ala3008Thr) missense_variant Not In ClinVar 32.67 [21.54] mg/dL 2 3.98E-06 rs760938593 2:21007847:C:T LDL-C APOB FOURIER c.9021G>A (p.Met3007Ile) missense_variant Not In ClinVar 26.85 [27.3] mg/dL 1 3.98E-06 rs1245621355 2:21007864:G:C LDL-C APOB UKBB c.9004C>G (p.Leu3002Val) missense_variant Not In ClinVar 46.59 [30.46] mg/dL 1 NA NA 2:21007915:T:C LDL-C APOB UKBB c.8953A>G (p.Lys2985Glu) missense_variant Not In ClinVar 47.54 [21.54] mg/dL 2 3.98E-06 rs1179639939 2:21007972:T:C LDL-C APOB UKBB c.8896A>G (p.Lys2966Glu) missense_variant Not In ClinVar 20.05 [30.46] mg/dL 1 NA NA 2:21007986:T:A LDL-C APOB UKBB c.8882A>T (p.Asn2961Ile) missense_variant Not In ClinVar 26.59 [13.9] mg/dL 5 4.38E-05 rs142756262 2:21008091:T:C LDL-C APOB UKBB c.8777A>G (p.Lys2926Arg) missense_variant Not In ClinVar 25.25 [21.55] mg/dL 2 NA NA 2:21008110:C:T LDL-C APOB UKBB c.8758G>A (p.Ala2920Thr) missense_variant Not In ClinVar 41.51 [30.46] mg/dL 1 NA NA 2:21008202:T:C LDL-C APOB FOURIER c.8666A>G (p.Tyr2889Cys) missense_variant Not In ClinVar 41.82 [27.32] mg/dL 1 NA NA 2:21008309:T:A LDL-C APOB UKBB c.8559A>T (p.Lys2853Asn) missense_variant Not In ClinVar 19.62 [30.46] mg/dL 1 NA NA 2:21008329:C:T LDL-C APOB UKBB c.8539G>A (p.Gly2847Arg) missense_variant Not In ClinVar 29.29 [30.46] mg/dL 1 NA NA 2:21008341:T:G LDL-C APOB UKBB c.8527A>C (p.Met2843Leu) missense_variant Not In ClinVar 34.41 [30.47] mg/dL 1 3.98E-06 rs1294025132 2:21008354:C:G LDL-C APOB UKBB c.8514G>C (p.Glu2838Asp) missense_variant Not In ClinVar 21.2 [21.53] mg/dL 2 NA NA 2:21008407:G:A LDL-C APOB UKBB c.8461C>T (p.Pro2821Ser) missense_variant Not In ClinVar 34.75 [30.46] mg/dL 1 NA NA 2:21008418:G:A LDL-C APOB UKBB c.8450C>T (p.Pro2817Leu) missense_variant Not In ClinVar 17.86 [30.46] mg/dL 1 3.98E-06 rs780434933 2:21008463:T:A LDL-C APOB UKBB c.8405A>T (p.Glu2802Val) missense_variant Not In ClinVar 70.96 [30.46] mg/dL 1 NA NA 2:21008524:T:G LDL-C APOB UKBB c.8344A>C (p.Thr2782Pro) missense_variant Not In ClinVar 31.01 [30.46] mg/dL 1 NA NA 2:21008602:C:A LDL-C APOB UKBB c.8266G>T (p.Gly2756Cys) missense_variant Not In ClinVar 34.22 [29.79] mg/dL 1 NA NA 2:21008619:A:G LDL-C APOB UKBB c.8249T>C (p.Ile2750Thr) missense_variant Not In ClinVar 37.64 [30.46] mg/dL 1 NA NA 2:21008622:G:T LDL-C APOB UKBB c.8246C>A (p.Thr2749Lys) missense_variant Not In ClinVar 18.8 [30.46] mg/dL 1 NA NA 2:21008623:T:C LDL-C APOB UKBB c.8245A>G (p.Thr2749Ala) missense_variant Not In ClinVar 17.97 [11.78] mg/dL 7 3.99E-06 rs1429563329 2:21008626:G:T LDL-C APOB UKBB c.8242C>A (p.His2748Asn) missense_variant Not In ClinVar 124.35 [30.47] mg/dL 1 NA NA 2:21008641:G:C LDL-C APOB UKBB c.8227C>G (p.Leu2743Val) missense_variant Not In ClinVar 36.01 [13.62] mg/dL 5 7.97E-06 rs777302365 2:21008725:C:T LDL-C APOB UKBB c.8143G>A (p.Glu2715Lys) missense_variant Not In ClinVar 29.52 [17.58] mg/dL 3 3.98E-06 rs779154032 2:21008823:C:G LDL-C APOB UKBB c.8045G>C (p.Ser2682Thr) missense_variant Not In ClinVar 21.7 [17.58] mg/dL 3 3.98E-06 rs375053331 2:21009004:T:C LDL-C APOB UKBB c.7864A>G (p.Thr2622Ala) missense_variant Not In ClinVar 25.12 [30.28] mg/dL 1 NA NA 2:21009009:G:C LDL-C APOB UKBB c.7859C>G (p.Pro2620Arg) missense_variant Not In ClinVar 51.31 [30.46] mg/dL 1 NA NA 2:21009013:C:T LDL-C APOB UKBB c.7855G>A (p.Val2619Ile) missense_variant Not In ClinVar 17.49 [21.54] mg/dL 2 NA NA 2:21009042:T:G LDL-C APOB UKBB c.7826A>C (p.Lys2609Thr) missense_variant Not In ClinVar 22.2 [21.54] mg/dL 2 3.98E-06 rs1421393250 2:21009082:T:C LDL-C APOB UKBB c.7786A>G (p.Thr2596Ala) missense_variant Not In ClinVar 18.7 [30.46] mg/dL 1 NA NA 2:21009089:G:C LDL-C APOB UKBB c.7779C>G (p.Ile2593Met) missense_variant Not In ClinVar 17.6 [30.46] mg/dL 1 3.99E-06 rs1381971004 2:21009103:C:T LDL-C APOB UKBB c.7765G>A (p.Glu2589Lys) missense_variant Not In ClinVar 28.31 [30.46] mg/dL 1 NA NA 2:21009112:T:C LDL-C APOB UKBB c.7756A>G (p.Thr2586Ala) missense_variant Not In ClinVar 26.06 [30.46] mg/dL 1 NA NA 2:21009117:C:A LDL-C APOB UKBB c.7751G>T (p.Gly2584Val) missense_variant Not In ClinVar 25.19 [30.46] mg/dL 1 7.98E-06 rs370426974 2:21009118:C:T LDL-C APOB UKBB c.7750G>A (p.Gly2584Arg) missense_variant Not In ClinVar 66.83 [30.46] mg/dL 1 NA rs1558563314 2:21009129:A:G LDL-C APOB UKBB c.7739T>C (p.Leu2580Ser) missense_variant Not In ClinVar 28.54 [30.46] mg/dL 1 1.60E-05 rs763409720 2:21009141:C:A LDL-C APOB UKBB c.7727G>T (p.Arg2576Leu) missense_variant Not In ClinVar 65.56 [30.46] mg/dL 1 NA NA 2:21009176:A:C LDL-C APOB UKBB c.7692T>G (p.Phe2564Leu) missense_variant Not In ClinVar 34.29 [30.46] mg/dL 1 NA NA 2:21009198:G:A LDL-C APOB UKBB c.7670C>T (p.Ala2557Val) missense_variant Not In ClinVar 17.34 [30.46] mg/dL 1 NA rs749632317 2:21009303:C:A LDL-C APOB UKBB c.7565G>T (p.Arg2522Leu) missense_variant Not In ClinVar 24.06 [30.46] mg/dL 1 NA NA 2:21009357:G:A LDL-C APOB UKBB c.7511C>T (p.Ser2504Phe) missense_variant Not In ClinVar 27.04 [30.46] mg/dL 1 NA NA 2:21009366:C:T LDL-C APOB UKBB c.7502G>A (p.Ser2501Asn) missense_variant Not In ClinVar 17.46 [30.46] mg/dL 1 1.19E-05 rs893804958 2:21009375:T:C LDL-C APOB UKBB c.7493A>G (p.Glu2498Gly) missense_variant Not In ClinVar 41.86 [30.46] mg/dL 1 NA NA 2:21009395:T:G LDL-C APOB UKBB c.7473A>C (p.Leu2491Phe) missense_variant Not In ClinVar 28.37 [30.46] mg/dL 1 NA NA 2:21009486:T:C LDL-C APOB UKBB c.7382A>G (p.Gln2461Arg) missense_variant Not In ClinVar 67.34 [30.46] mg/dL 1 NA rs762626761 2:21009490:G:A LDL-C APOB UKBB c.7378C>T (p.Pro2460Ser) missense_variant Not In ClinVar 25.75 [17.59] mg/dL 3 NA NA 2:21009496:C:G LDL-C APOB FOURIER c.7372G>C (p.Glu2458Gln) missense_variant Not In ClinVar 28.43 [27.16] mg/dL 1 1.99E-05 rs200783423 2:21009522:C:T LDL-C APOB UKBB c.7346G>A (p.Arg2449Lys) missense_variant Not In ClinVar 49.74 [21.52] mg/dL 2 NA rs576639442 2:21009549:T:C LDL-C APOB UKBB c.7319A>G (p.Asn2440Ser) missense_variant Not In ClinVar 21.61 [13.61] mg/dL 5 3.99E-06 rs1458149815 2:21009636:G:A LDL-C APOB UKBB c.7232C>T (p.Thr2411Ile) missense_variant Not In ClinVar 19.99 [10.74] mg/dL 8 4.00E-06 rs752133513 2:21009678:A:G LDL-C APOB UKBB c.7190T>C (p.Ile2397Thr) missense_variant Not In ClinVar 66.24 [21.54] mg/dL 2 4.01E-06 rs766659611 2:21009682:A:T LDL-C APOB UKBB c.7186T>A (p.Phe2396Ile) missense_variant Not In ClinVar 41.42 [30.46] mg/dL 1 NA NA 2:21009723:T:G LDL-C APOB UKBB c.7145A>C (p.Gln2382Pro) missense_variant Not In ClinVar 44.48 [30.46] mg/dL 1 NA NA 2:21009738:A:G LDL-C APOB UKBB c.7130T>C (p.Leu2377Pro) missense_variant Not In ClinVar 27.35 [30.46] mg/dL 1 NA NA 2:21009750:G:C LDL-C APOB UKBB c.7118C>G (p.Thr2373Ser) missense_variant Not In ClinVar 31.01 [30.46] mg/dL 1 NA NA 2:21009767:T:G LDL-C APOB UKBB c.7101A>C (p.Gln2367His) missense_variant Not In ClinVar 18.15 [21.54] mg/dL 2 NA NA 2:21009933:T:C LDL-C APOB UKBB c.6935A>G (p.Asp2312Gly) missense_variant Not In ClinVar 24.69 [21.54] mg/dL 2 4.78E-05 rs1421302435 2:21009954:A:G LDL-C APOB UKBB c.6914T>C (p.Ile2305Thr) missense_variant Not In ClinVar 32.47 [30.46] mg/dL 1 NA NA 2:21009982:C:G LDL-C APOB UKBB c.6886G>C (p.Val2296Leu) missense_variant Not In ClinVar 18.93 [30.46] mg/dL 1 7.96E-06 rs150721027 2:21010005:T:G LDL-C APOB UKBB c.6863A>C (p.His2288Pro) missense_variant Not In ClinVar 54.89 [30.46] mg/dL 1 NA NA 2:21010030:G:T LDL-C APOB UKBB c.6838C>A (p.His2280Asn) missense_variant Not In ClinVar 18.62 [30.46] mg/dL 1 NA NA 2:21010041:A:G LDL-C APOB UKBB c.6827T>C (p.Ile2276Thr) missense_variant Not In ClinVar 41.96 [30.46] mg/dL 1 NA rs1553383646 2:21010046:C:A LDL-C APOB UKBB c.6822G>T (p.Gln2274His) missense_variant Not In ClinVar 22.3 [30.46] mg/dL 1 NA NA 2:21010144:C:G LDL-C APOB UKBB c.6724G>C (p.Gly2242Arg) missense_variant Not In ClinVar 20.41 [30.46] mg/dL 1 NA NA 2:21010324:C:A LDL-C APOB UKBB c.6544G>T (p.Asp2182Tyr) missense_variant Not In ClinVar 37.45 [30.47] mg/dL 1 4.75E-06 rs1558564156 2:21010351:G:C LDL-C APOB UKBB c.6517C>G (p.Gln2173Glu) missense_variant Not In ClinVar 37.9 [29.25] mg/dL 1 8.71E-06 rs200370790 2:21010392:G:C LDL-C APOB UKBB c.6476C>G (p.Ala2159Gly) missense_variant Not In ClinVar 42.75 [21.54] mg/dL 2 NA NA 2:21010585:C:A LDL-C APOB UKBB c.6283G>T (p.Val2095Leu) missense_variant Not In ClinVar 23.63 [30.46] mg/dL 1 NA NA 2:21010632:T:C LDL-C APOB UKBB c.6236A>G (p.Glu2079Gly) missense_variant Not In ClinVar 64.91 [30.46] mg/dL 1 NA NA 2:21010638:A:G LDL-C APOB UKBB c.6230T>C (p.Leu2077Ser) missense_variant Not In ClinVar 30.79 [21.54] mg/dL 2 NA NA 2:21010641:G:A LDL-C APOB UKBB c.6227C>T (p.Thr2076Ile) missense_variant Not In ClinVar 43.27 [21.54] mg/dL 2 1.19E-05 rs371068679 2:21010689:T:C LDL-C APOB UKBB c.6179A>G (p.Tyr2060Cys) missense_variant Not In ClinVar 31.74 [30.46] mg/dL 1 3.98E-06 rs753938407 2:21010707:A:G LDL-C APOB UKBB c.6161T>C (p.Ile2054Thr) missense_variant Not In ClinVar 36.73 [21.54] mg/dL 2 NA rs538245770 2:21010725:T:C LDL-C APOB UKBB c.6143A>G (p.Lys2048Arg) missense_variant Not In ClinVar 34.67 [30.46] mg/dL 1 NA NA 2:21010737:T:C LDL-C APOB FOURIER c.6131A>G (p.Asp2044Gly) missense_variant Not In ClinVar 62.21 [27.65] mg/dL 1 NA rs1558564449 2:21010758:A:G LDL-C APOB FOURIER c.6110T>C (p.Ile2037Thr) missense_variant Not In ClinVar 16.84 [13.66] mg/dL 4 1.99E-05 rs150068105 2:21010764:T:C LDL-C APOB UKBB c.6104A>G (p.Asn2035Ser) missense_variant Not In ClinVar 17.78 [30.46] mg/dL 1 NA rs749057660 2:21010863:T:C LDL-C APOB FOURIER c.6005A>G (p.Lys2002Arg) missense_variant Not In ClinVar 48.38 [27.37] mg/dL 1 NA NA 2:21010900:T:G LDL-C APOB UKBB c.5968A>C (p.Asn1990His) missense_variant Not In ClinVar 24.79 [21.54] mg/dL 2 NA rs372283478 2:21010945:C:A LDL-C APOB UKBB c.5923G>T (p.Ala1975Ser) missense_variant Not In ClinVar 32.17 [30.46] mg/dL 1 3.98E-06 rs962782390 2:21010962:C:T LDL-C APOB UKBB c.5906G>A (p.Ser1969Asn) missense_variant Not In ClinVar 35.33 [21.54] mg/dL 2 NA NA 2:21010992:C:T LDL-C APOB UKBB c.5876G>A (p.Ser1959Asn) missense_variant Not In ClinVar 60.36 [30.46] mg/dL 1 NA NA 2:21010998:C:T LDL-C APOB UKBB c.5870G>A (p.Arg1957Lys) missense_variant Not In ClinVar 45.89 [30.46] mg/dL 1 NA rs868467341 2:21011011:G:T LDL-C APOB UKBB c.5857C>A (p.His1953Asn) missense_variant Not In ClinVar 20.42 [30.46] mg/dL 1 NA NA 2:21011037:T:A LDL-C APOB UKBB c.5831A>T (p.His1944Leu) missense_variant Not In ClinVar 64.91 [30.42] mg/dL 1 NA NA 2:21011146:C:A LDL-C APOB UKBB c.5722G>T (p.Asp1908Tyr) missense_variant Not In ClinVar 27.84 [30.46] mg/dL 1 NA NA 2:21011154:A:G LDL-C APOB UKBB c.5714T>C (p.Met1905Thr) missense_variant Not In ClinVar 53.66 [30.46] mg/dL 1 3.98E-06 rs757292609 2:21011191:T:A LDL-C APOB UKBB c.5677A>T (p.Ser1893Cys) missense_variant Not In ClinVar 64.92 [30.46] mg/dL 1 NA NA 2:21011254:T:C LDL-C APOB UKBB c.5614A>G (p.Ile1872Val) missense_variant Not In ClinVar 51.52 [30.46] mg/dL 1 7.96E-06 rs758708880 2:21011269:G:C LDL-C APOB UKBB c.5599C>G (p.Arg1867Gly) missense_variant Not In ClinVar 42.23 [30.46] mg/dL 1 NA NA 2:21011293:C:A LDL-C APOB UKBB c.5575G>T (p.Val1859Phe) missense_variant Not In ClinVar 34.63 [30.46] mg/dL 1 3.98E-06 rs770773955 2:21011404:G:C LDL-C APOB UKBB c.5464C>G (p.His1822Asp) missense_variant Not In ClinVar 27.67 [30.46] mg/dL 1 NA NA 2:21011473:T:C LDL-C APOB UKBB c.5395A>G (p.Ser1799Gly) missense_variant Not In ClinVar 31.02 [30.46] mg/dL 1 NA rs1172073539 2:21011481:G:A LDL-C APOB UKBB c.5387C>T (p.Thr1796Ile) missense_variant Not In ClinVar 20.19 [11.51] mg/dL 7 3.98E-06 rs529168934 2:21011614:C:T LDL-C APOB FOURIER c.5254G>A (p.Asp1752Asn) missense_variant Not In ClinVar 22.68 [27.56] mg/dL 1 NA NA 2:21011640:A:G LDL-C APOB UKBB c.5228T>C (p.Met1743Thr) missense_variant Not In ClinVar 65.34 [30.43] mg/dL 1 NA NA 2:21011649:T:G LDL-C APOB UKBB c.5219A>C (p.Asn1740Thr) missense_variant Not In ClinVar 50.76 [30.46] mg/dL 1 NA NA 2:21011652:G:A LDL-C APOB UKBB c.5216C>T (p.Ser1739Leu) missense_variant Not In ClinVar 43.31 [30.46] mg/dL 1 NA NA 2:21011694:T:C LDL-C APOB UKBB c.5174A>G (p.Asn1725Ser) missense_variant Not In ClinVar 22.2 [30.37] mg/dL 1 NA NA 2:21011770:C:T LDL-C APOB FOURIER c.5098G>A (p.Asp1700Asn) missense_variant Not In ClinVar 81.25 [27.52] mg/dL 1 3.98E-06 rs140783923 2:21011917:C:T LDL-C APOB UKBB c.4951G>A (p.Gly1651Arg) missense_variant Not In ClinVar 27.63 [30.46] mg/dL 1 7.99E-06 rs748424949 2:21011925:C:T LDL-C APOB UKBB c.4943G>A (p.Gly1648Asp) missense_variant Not In ClinVar 45.72 [30.46] mg/dL 1 4.00E-06 rs747178150 2:21011931:C:T LDL-C APOB UKBB c.4937G>A (p.Arg1646Lys) missense_variant Not In ClinVar 21.54 [30.46] mg/dL 1 NA rs1048145717 2:21011949:G:C LDL-C APOB UKBB c.4919C>G (p.Ala1640Gly) missense_variant Not In ClinVar 18.08 [13.62] mg/dL 5 4.01E-06 rs769028062 2:21011950:C:T LDL-C APOB UKBB c.4918G>A (p.Ala1640Thr) missense_variant Not In ClinVar 23.14 [15.22] mg/dL 4 4.01E-06 rs1445836748 2:21012103:T:C LDL-C APOB UKBB c.4765A>G (p.Met1589Val) missense_variant Not In ClinVar 27.43 [21.53] mg/dL 2 NA rs1572785258 2:21012221:A:T LDL-C APOB UKBB c.4647T>A (p.Asp1549Glu) missense_variant Not In ClinVar 33.43 [30.46] mg/dL 1 NA NA 2:21012289:G:A LDL-C APOB UKBB c.4579C>T (p.Leu1527Phe) missense_variant Not In ClinVar 82.66 [30.46] mg/dL 1 NA rs1258983472 2:21012348:C:T LDL-C APOB UKBB c.4520G>A (p.Arg1507Lys) missense_variant Not In ClinVar 17.02 [13.62] mg/dL 5 NA rs748251675 2:21012411:A:G LDL-C APOB UKBB c.4457T>C (p.Ile1486Thr) missense_variant Not In ClinVar 45.61 [30.46] mg/dL 1 NA NA 2:21012513:A:G LDL-C APOB UKBB c.4355T>C (p.Leu1452Ser) missense_variant Not In ClinVar 18.06 [30.46] mg/dL 1 NA NA 2:21012516:C:T LDL-C APOB UKBB c.4352G>A (p.Gly1451Asp) missense_variant Not In ClinVar 25.55 [15.23] mg/dL 4 3.98E-06 rs777471630 2:21012526:C:T LDL-C APOB UKBB c.4342G>A (p.Val1448Ile) missense_variant Not In ClinVar 74.54 [30.46] mg/dL 1 NA NA 2:21012582:T:G LDL-C APOB UKBB c.4286A>C (p.Lys1429Thr) missense_variant Not In ClinVar 28.17 [30.46] mg/dL 1 NA NA 2:21012636:G:A LDL-C APOB UKBB c.4232C>T (p.Thr1411Ile) missense_variant Not In ClinVar 21.95 [21.28] mg/dL 2 NA NA 2:21013357:A:G LDL-C APOB UKBB c.4019T>C (p.Phe1340Ser) missense_variant Not In ClinVar 19.94 [30.46] mg/dL 1 3.98E-06 rs755257567 2:21013471:A:C LDL-C APOB FOURIER c.3905T>G (p.Phe1302Cys) missense_variant Not In ClinVar 25.98 [27.25] mg/dL 1 NA rs979720051 2:21013475:G:A LDL-C APOB FOURIER c.3901C>T (p.Pro1301Ser) missense_variant Not In ClinVar 47.57 [27.28] mg/dL 1 NA NA 2:21014513:C:G LDL-C APOB UKBB c.3777G>C (p.Lys1259Asn) missense_variant Not In ClinVar 30.28 [17.58] mg/dL 3 NA NA 2:21014557:G:A LDL-C APOB UKBB c.3733C>T (p.Leu1245Phe) missense_variant Not In ClinVar 25.5 [30.46] mg/dL 1 NA NA 2:21015492:A:G LDL-C APOB UKBB c.3386T>C (p.Leu1129Ser) missense_variant Not In ClinVar 23.14 [21.54] mg/dL 2 NA NA 2:21015511:C:T LDL-C APOB UKBB c.3367G>A (p.Val1123Ile) missense_variant Not In ClinVar 26.72 [30.46] mg/dL 1 NA NA 2:21016455:G:A LDL-C APOB UKBB c.3316C>T (p.Leu1106Phe) missense_variant Not In ClinVar 45.6 [30.46] mg/dL 1 7.96E-06 rs750542641 2:21016532:T:C LDL-C APOB UKBB c.3239A>G (p.Asn1080Ser) missense_variant Not In ClinVar 18.2 [6.36] mg/dL 23 1.59E-05 rs201825493 2:21016575:T:A LDL-C APOB UKBB c.3196A>T (p.Ile1066Phe) missense_variant Not In ClinVar 72.15 [30.46] mg/dL 1 NA NA 2:21016620:A:G LDL-C APOB UKBB c.3151T>C (p.Phe1051Leu) missense_variant Not In ClinVar 31.36 [30.46] mg/dL 1 NA NA 2:21019040:C:T LDL-C APOB UKBB c.3073G>A (p.Glu1025Lys) missense_variant Not In ClinVar 33.4 [30.46] mg/dL 1 NA NA 2:21019045:T:A LDL-C APOB UKBB c.3068A>T (p.Gln1023Leu) missense_variant Not In ClinVar 42.72 [30.46] mg/dL 1 NA NA 2:21019077:C:G LDL-C APOB UKBB c.3036G>C (p.Glu1012Asp) missense_variant Not In ClinVar 29.54 [30.46] mg/dL 1 NA NA 2:21019083:C:G LDL-C APOB UKBB c.3030G>C (p.Glu1010Asp) missense_variant Not In ClinVar 50.32 [30.46] mg/dL 1 3.98E-06 rs764325150 2:21019106:G:C LDL-C APOB UKBB c.3007C>G (p.Leu1003Val) missense_variant Not In ClinVar 38.15 [30.46] mg/dL 1 NA NA 2:21019750:G:A LDL-C APOB UKBB c.2972C>T (p.Ser991Phe) missense_variant Not In ClinVar 51.32 [30.46] mg/dL 1 3.98E-06 rs1188407566 2:21019753:G:A LDL-C APOB UKBB c.2969C>T (p.Ala990Val) missense_variant Not In ClinVar 65.4 [30.46] mg/dL 1 NA NA 2:21019766:A:G LDL-C APOB UKBB c.2956T>C (p.Ser986Pro) missense_variant Not In ClinVar 32 [30.46] mg/dL 1 NA NA 2:21019774:T:C LDL-C APOB UKBB c.2948A>G (p.Asn983Ser) missense_variant Not In ClinVar 88.16 [29.78] mg/dL 1 3.98E-06 rs1407756735 2:21019835:A:G LDL-C APOB UKBB c.2887T>C (p.Trp963Arg) missense_variant Not In ClinVar 48.26 [30.46] mg/dL 1 NA rs1435043458 2:21022919:C:T LDL-C APOB UKBB c.2728G>A (p.Gly910Ser) missense_variant Not In ClinVar 30.06 [21.54] mg/dL 2 7.96E-06 rs747610107 2:21023026:A:G LDL-C APOB UKBB c.2621T>C (p.Val874Ala) missense_variant Not In ClinVar 20.92 [30.46] mg/dL 1 NA NA 2:21023031:T:A LDL-C APOB FOURIER c.2616A>T (p.Glu872Asp) missense_variant Not In ClinVar 41.29 [27.42] mg/dL 1 3.98E-06 rs767525908 2:21023538:A:G LDL-C APOB UKBB c.2591T>C (p.Leu864Pro) missense_variant Not In ClinVar 49.6 [30.46] mg/dL 1 NA NA 2:21023563:G:A LDL-C APOB UKBB c.2566C>T (p.Pro856Ser) missense_variant Not In ClinVar 31.96 [30.46] mg/dL 1 NA NA 2:21023565:G:A LDL-C APOB UKBB c.2564C>T (p.Ala855Val) missense_variant Not In ClinVar 32.4 [30.46] mg/dL 1 NA NA 2:21023595:T:C LDL-C APOB UKBB c.2534A>G (p.Gln845Arg) missense_variant Not In ClinVar 34.12 [30.46] mg/dL 1 NA NA 2:21023622:A:G LDL-C APOB UKBB c.2507T>C (p.Phe836Ser) missense_variant Not In ClinVar 66.77 [30.46] mg/dL 1 NA NA 2:21023634:A:G LDL-C APOB UKBB c.2495T>C (p.Met832Thr) missense_variant Not In ClinVar 34.25 [30.46] mg/dL 1 NA NA 2:21024934:A:G LDL-C APOB UKBB c.2435T>C (p.Met812Thr) missense_variant Not In ClinVar 18.42 [30.46] mg/dL 1 NA rs943834069 2:21024973:A:G LDL-C APOB UKBB c.2396T>C (p.Leu799Pro) missense_variant Not In ClinVar 49.27 [30.46] mg/dL 1 NA NA 2:21024983:C:T LDL-C APOB UKBB c.2386G>A (p.Gly796Arg) missense_variant Not In ClinVar 36.48 [30.46] mg/dL 1 NA NA 2:21024995:G:A LDL-C APOB FOURIER c.2374C>T (p.Leu792Phe) missense_variant Not In ClinVar 19.08 [27.14] mg/dL 1 NA NA 2:21025023:C:G LDL-C APOB UKBB c.2346G>C (p.Glu782Asp) missense_variant Not In ClinVar 17.45 [15.24] mg/dL 4 2.78E-05 rs770250347 2:21025036:C:A LDL-C APOB UKBB c.2333G>T (p.Arg778Leu) missense_variant Not In ClinVar 27.84 [30.51] mg/dL 1 NA NA 2:21025052:C:T LDL-C APOB UKBB c.2317G>A (p.Ala773Thr) missense_variant Not In ClinVar 79.72 [21.54] mg/dL 2 NA NA 2:21025055:C:G LDL-C APOB UKBB c.2314G>C (p.Glu772Gln) missense_variant Not In ClinVar 43.23 [30.31] mg/dL 1 NA NA 2:21025085:T:G LDL-C APOB UKBB c.2284A>C (p.Ile762Leu) missense_variant Not In ClinVar 78.99 [30.47] mg/dL 1 NA NA 2:21025105:A:G LDL-C APOB UKBB c.2264T>C (p.Met755Thr) missense_variant Not In ClinVar 28.35 [30.46] mg/dL 1 NA NA 2:21025121:T:C LDL-C APOB UKBB c.2248A>G (p.Met750Val) missense_variant Not In ClinVar 82.91 [30.47] mg/dL 1 4.00E-06 rs1335266600 2:21026901:A:G LDL-C APOB UKBB c.2131T>C (p.Phe711Leu) missense_variant Not In ClinVar 23.66 [21.37] mg/dL 2 3.98E-06 rs746180039 2:21026918:A:C LDL-C APOB FOURIER c.2114T>G (p.Phe705Cys) missense_variant Not In ClinVar 80.18 [27.23] mg/dL 1 3.98E-06 rs898106597 2:21026924:G:A LDL-C APOB UKBB c.2108C>T (p.Ala703Val) missense_variant Not In ClinVar 33.62 [30.46] mg/dL 1 NA NA 2:21027979:A:C LDL-C APOB UKBB c.1916T>G (p.Leu639Arg) missense_variant Not In ClinVar 64.83 [30.46] mg/dL 1 NA NA 2:21027992:G:A LDL-C APOB UKBB c.1903C>T (p.Arg635Trp) missense_variant Not In ClinVar 17.07 [30.46] mg/dL 1 2.39E-05 rs548108916 2:21028000:T:C LDL-C APOB UKBB c.1895A>G (p.Lys632Arg) missense_variant Not In ClinVar 19.93 [30.46] mg/dL 1 NA NA 2:21028025:G:A LDL-C APOB UKBB c.1870C>T (p.Leu624Phe) missense_variant Not In ClinVar 21 [30.46] mg/dL 1 NA rs1572795958 2:21028370:G:A LDL-C APOB UKBB c.1786C>T (p.His596Tyr) missense_variant Not In ClinVar 18.1 [30.46] mg/dL 1 NA rs1461214675 2:21028453:C:T LDL-C APOB UKBB c.1703G>A (p.Ser568Asn) missense_variant Not In ClinVar 19.03 [30.46] mg/dL 1 NA NA 2:21028455:C:G LDL-C APOB UKBB c.1701G>C (p.Arg567Ser) missense_variant Not In ClinVar 34.3 [21.5] mg/dL 2 NA rs981207307 2:21028466:T:G LDL-C APOB FOURIER c.1690A>C (p.Met564Leu) missense_variant Not In ClinVar 24.05 [27.42] mg/dL 1 NA NA 2:21028499:A:G LDL-C APOB UKBB c.1657T>C (p.Ser553Pro) missense_variant Not In ClinVar 18.6 [30.27] mg/dL 1 NA NA 2:21029748:G:A LDL-C APOB UKBB c.1508C>T (p.Thr503Ile) missense_variant Not In ClinVar 30.09 [30.46] mg/dL 1 NA NA 2:21032529:G:A LDL-C APOB UKBB c.1177C>T (p.His393Tyr) missense_variant Not In ClinVar 19.42 [30.46] mg/dL 1 NA NA 2:21032540:T:C LDL-C APOB UKBB c.1166A>G (p.Gln389Arg) missense_variant Not In ClinVar 82.59 [30.46] mg/dL 1 NA rs1135402763 2:21033416:G:A LDL-C APOB UKBB c.1007C>T (p.Thr336Ile) missense_variant Not In ClinVar 41.63 [30.47] mg/dL 1 NA NA 2:21033422:T:G LDL-C APOB UKBB c.1001A>C (p.Lys334Thr) missense_variant Not In ClinVar 42.1 [30.47] mg/dL 1 3.98E-06 rs1373621190 2:21033458:G:T LDL-C APOB UKBB c.965C>A (p.Ala322Asp) missense_variant Not In ClinVar 24.56 [21.54] mg/dL 2 3.98E-06 rs750454285 2:21033518:C:G LDL-C APOB UKBB c.905G>C (p.Gly302Ala) missense_variant Not In ClinVar 27.16 [21.54] mg/dL 2 NA NA 2:21035592:G:C LDL-C APOB UKBB c.810C>G (p.Phe270Leu) missense_variant Not In ClinVar 64.72 [23.56] mg/dL 2 NA NA 2:21035643:C:A LDL-C APOB UKBB c.759G>T (p.Arg253Ser) missense_variant Not In ClinVar 36.38 [21.54] mg/dL 2 NA NA 2:21035686:A:C LDL-C APOB UKBB c.716T>G (p.Ile239Ser) missense_variant Not In ClinVar 62.84 [30.46] mg/dL 1 NA NA 2:21037101:A:G LDL-C APOB UKBB c.692T>C (p.Met231Thr) missense_variant Not In ClinVar 20.2 [29.93] mg/dL 1 NA NA 2:21040991:T:G LDL-C APOB UKBB c.330A>C (p.Lys110Asn) missense_variant Not In ClinVar 50.45 [15.58] mg/dL 4 NA NA 2:21041026:G:T LDL-C APOB UKBB c.295C>A (p.Leu99Met) missense_variant Not In ClinVar 60 [30.46] mg/dL 1 NA NA 2:21041055:C:T LDL-C APOB UKBB c.266G>A (p.Ser89Asn) missense_variant Not In ClinVar 17.31 [12.43] mg/dL 6 3.99E-06 rs1226992086 2:21042393:C:A LDL-C APOB UKBB c.205G>T (p.Asp69Tyr) missense_variant Not In ClinVar 18.83 [30.47] mg/dL 1 NA NA 2:21042402:C:G LDL-C APOB UKBB c.196G>C (p.Gly66Arg) missense_variant Not In ClinVar 57.69 [30.46] mg/dL 1 NA NA 2:21042473:T:C LDL-C APOB UKBB c.125A>G (p.Asp42Gly) missense_variant Not In ClinVar 30.69 [30.47] mg/dL 1 NA NA 2:21043539:A:C LDL-C APOB UKBB c.95T>G (p.Leu32Arg) missense_variant Not In ClinVar 43.28 [30.46] mg/dL 1 NA rs1350695060 20:44406138:C:T HbA1c HNF4A UKBB c.196C>T (p.Arg66Trp) missense_variant Not In ClinVar 0.53 [0.49] (%) 1 NA NA 20:44407388:C:G HbA1c HNF4A UKBB c.298C>G (p.Arg100Gly) missense_variant Not In ClinVar 1.62 [0.49] (%) 1 NA NA 20:44407414:G:C HbA1c HNF4A UKBB c.324G>C (p.Lys108Asn) missense_variant Not In ClinVar 0.52 [0.49] (%) 1 NA NA 20:44413711:G:A HbA1c HNF4A UKBB c.403G>A (p.Asp135Asn) missense_variant Not In ClinVar 0.31 [0.49] (%) 1 NA NA 20:44413727:G:A HbA1c HNF4A FOURIER c.419G>A (p.Arg140Gln) missense_variant Not In ClinVar 0.62 [0.89] (%) 1 4.78E-05 rs764196059 20:44413739:A:G HbA1c HNF4A UKBB c.431A>G (p.Tyr144Cys) missense_variant Not In ClinVar 0.9 [0.49] (%) 1 NA NA 20:44413769:C:T HbA1c HNF4A UKBB c.461C>T (p.Ala154Val) missense_variant Not In ClinVar 0.31 [0.34] (%) 2 1.20E-05 rs147342965 20:44414534:G:A HbA1c HNF4A UKBB c.520G>A (p.Gly174Ser) missense_variant Not In ClinVar 0.66 [0.16] (%) 10 7.95E-06 rs760038979 20:44414581:G:C HbA1c HNF4A UKBB c.567G>C (p.Glu189Asp) missense_variant Not In ClinVar 0.74 [0.49] (%) 1 NA NA 20:44414617:G:A HbA1c HNF4A UKBB c.603G>A (p.Trp201Ter) stop_gained Not In ClinVar 0.53 [0.49] (%) 1 NA NA 20:44414649:C:T HbA1c HNF4A FOURIER c.635C>T (p.Pro212Leu) missense_variant Not In ClinVar 0.48 [0.45] (%) 4 1.65E-04 rs201749293 20:44414660:C:A HbA1c HNF4A UKBB c.646C>A (p.Gln216Lys) missense_variant Not In ClinVar 0.37 [0.49] (%) 1 NA NA 20:44419732:A:G HbA1c HNF4A UKBB c.748A>G (p.Ile250Val) missense_variant Not In ClinVar 0.7 [0.49] (%) 1 1.19E-05 rs773402510 20:44419741:C:T HbA1c HNF4A UKBB c.757C>T (p.Arg253Trp) missense_variant Not In ClinVar 0.75 [0.34] (%) 2 3.98E-06 rs376013528 20:44419764:G:C HbA1c HNF4A UKBB c.780G>C (p.Glu260Asp) missense_variant Not In ClinVar 0.34 [0.34] (%) 2 NA rs1259110384 20:44419766:T:C HbA1c HNF4A UKBB c.782T>C (p.Met261Thr) missense_variant Not In ClinVar 0.34 [0.48] (%) 1 NA NA 20:44424117:G:T HbA1c HNF4A UKBB c.992G>T (p.Arg331Leu) missense_variant Not In ClinVar 1.23 [0.29] (%) 3 NA NA 20:44424222:T:C HbA1c HNF4A UKBB c.1097T>C (p.Ile366Thr) missense_variant Not In ClinVar 0.69 [0.34] (%) 2 3.99E-06 rs777332317 20:44424224:G:T HbA1c HNF4A UKBB c.1099G>T (p.Asp367Tyr) missense_variant Not In ClinVar 0.49 [0.49] (%) 1 NA NA 20:44428401:G:A HbA1c HNF4A UKBB c.1196G>A (p.Gly399Glu) missense_variant Not In ClinVar 0.37 [0.49] (%) 1 3.98E-06 rs769972803 20:44428427:A:G HbA1c HNF4A UKBB c.1222A>G (p.Met408Val) missense_variant Not In ClinVar 1.13 [0.49] (%) 1 4.38E-05 rs530264224 20:44428431:C:A HbA1c HNF4A UKBB c.1226C>A (p.Pro409His) missense_variant Not In ClinVar 0.39 [0.28] (%) 3 3.98E-06 rs148745312 20:44428436:C:A HbA1c HNF4A UKBB c.1231C>A (p.His411Asn) missense_variant Not In ClinVar 0.43 [0.34] (%) 2 7.96E-06 rs762669064 20:44428440:T:C HbA1c HNF4A UKBB c.1235T>C (p.Leu412Pro) missense_variant Not In ClinVar 0.36 [0.49] (%) 1 NA NA 20:44428457:T:C HbA1c HNF4A UKBB c.1252T>C (p.Cys418Arg) missense_variant Not In ClinVar 0.49 [0.49] (%) 1 NA NA 20:44428479:G:A HbA1c HNF4A UKBB c.1274G>A (p.Gly425Glu) missense_variant Not In ClinVar 0.47 [0.28] (%) 3 2.40E-05 rs755961897 3:38550406:T:C QTc SCN5A TOPMed c.5963A>G (p.Gln1988Arg) missense_variant Not In ClinVar 24.15 [21.77] ms 1 NA rs1052861074 3:38550622:A:G QTc SCN5A TOPMed c.5747T>C (p.Leu1916Pro) missense_variant Not In ClinVar 43.37 [22.2] ms 1 NA rs765713843 3:38550671:C:T QTc SCN5A UKBB c.5698G>A (p.Glu1900Lys) missense_variant Not In ClinVar 24.84 [13.32] ms 3 2.01E-05 rs199473325 3:38550993:C:G QTc SCN5A TOPMed c.5376G>C (p.Met1792Ile) missense_variant Not In ClinVar 32.09 [21.86] ms 1 NA NA 3:38551454:C:T QTc SCN5A UKBB c.4915G>A (p.Ala1639Thr) missense_variant Not In ClinVar 18.2 [23.07] ms 1 NA rs1016091566 3:38554279:C:A QTc SCN5A TOPMed c.4810G>T (p.Gly1604Cys) missense_variant Not In ClinVar 29.59 [22.35] ms 1 8.13E-06 rs794728938 3:38554302:A:G QTc SCN5A TOPMed c.4787T>C (p.Val1596Ala) missense_variant Not In ClinVar 46.03 [22.25] ms 1 NA rs775062862 3:38554303:C:A QTc SCN5A TOPMed c.4786G>T (p.Val1596Leu) missense_variant Not In ClinVar 18.01 [21.86] ms 1 NA rs199473279 3:38554476:C:A QTc SCN5A UKBB c.4613G>T (p.Cys1538Phe) missense_variant Not In ClinVar 47.74 [23.08] ms 1 4.01E-06 rs770780069 3:38554491:A:G QTc SCN5A UKBB c.4598T>C (p.Ile1533Thr) missense_variant Not In ClinVar 26.86 [23.07] ms 1 NA NA 3:38556540:C:A QTc SCN5A UKBB c.4335G>T (p.Met1445Ile) missense_variant Not In ClinVar 31.87 [16.31] ms 2 NA NA 3:38560200:C:T QTc SCN5A UKBB c.4189G>A (p.Val1397Met) missense_variant Not In ClinVar 49.18 [23.06] ms 1 8.02E-06 rs1434495282 3:38560202:T:C QTc SCN5A UKBB c.4187A>G (p.Lys1396Arg) missense_variant Not In ClinVar 17.27 [23.06] ms 1 NA NA 3:38560362:A:G QTc SCN5A TOPMed c.4027T>C (p.Phe1343Leu) missense_variant Not In ClinVar 50.73 [22.19] ms 1 NA rs199473228 3:38560389:T:C QTc SCN5A TOPMed c.4000A>G (p.Met1334Val) missense_variant Not In ClinVar 14.91 [22.35] ms 1 NA rs374268607 3:38562477:A:C QTc SCN5A UKBB c.3898T>G (p.Ser1300Ala) missense_variant Not In ClinVar 21.2 [23.07] ms 1 NA NA 3:38566567:A:G QTc SCN5A UKBB c.3679T>C (p.Tyr1227His) missense_variant Not In ClinVar 21.25 [23.07] ms 1 4.01E-06 rs199473205 3:38575437:A:T QTc SCN5A UKBB c.3523T>A (p.Cys1175Ser) missense_variant Not In ClinVar 21.87 [23.07] ms 1 NA rs1390530399 3:38575442:C:T QTc SCN5A UKBB c.3518G>A (p.Arg1173Gln) missense_variant Not In ClinVar 25.36 [16.31] ms 2 NA rs772266572 3:38576711:A:T QTc SCN5A UKBB c.3458T>A (p.Ile1153Asn) missense_variant Not In ClinVar 44.84 [16.31] ms 2 8.39E-06 rs536585114 3:38579437:C:A QTc SCN5A TOPMed c.3284G>T (p.Ser1095Ile) missense_variant Not In ClinVar 14.32 [21.81] ms 1 NA rs1254283773 3:38579455:G:T QTc SCN5A UKBB c.3266C>A (p.Pro1089Gln) missense_variant Not In ClinVar 23.78 [23.07] ms 1 4.07E-06 rs1805125 3:38580944:T:G QTc SCN5A TOPMed c.3215A>C (p.Glu1072Ala) missense_variant Not In ClinVar 14.29 [12.13] ms 4 NA rs879180388 3:38580945:C:A QTc SCN5A TOPMed c.3214G>T (p.Glu1072Ter) stop_gained Not In ClinVar 14.29 [12.13] ms 4 NA rs879114460 3:38581049:C:A QTc SCN5A TOPMed c.3110G>T (p.Gly1037Val) missense_variant Not In ClinVar 21.48 [21.91] ms 1 NA rs201831535 3:38581209:G:C QTc SCN5A TOPMed c.2950C>G (p.Leu984Val) missense_variant Not In ClinVar 13.83 [15.78] ms 2 NA rs1388344088 3:38581222:A:T QTc SCN5A TOPMed c.2937T>A (p.Asp979Glu) missense_variant Not In ClinVar 16.28 [22.16] ms 1 NA rs1370048998 3:38581263:T:C QTc SCN5A UKBB c.2896A>G (p.Ile966Val) missense_variant Not In ClinVar 13.35 [23.08] ms 1 NA NA 3:38581278:G:C QTc SCN5A TOPMed c.2881C>G (p.Leu961Val) missense_variant Not In ClinVar 13.88 [21.85] ms 1 NA NA 3:38585882:A:G QTc SCN5A TOPMed c.2596T>C (p.Ser866Pro) missense_variant Not In ClinVar 34.79 [21.87] ms 1 3.98E-06 rs781480956 3:38585887:T:C QTc SCN5A UKBB c.2591A>G (p.Asn864Ser) missense_variant Not In ClinVar 12.19 [23.07] ms 1 NA NA 3:38587491:T:C QTc SCN5A UKBB c.2345A>G (p.Asn782Ser) missense_variant Not In ClinVar 13.46 [16.31] ms 2 NA NA 3:38587525:G:A QTc SCN5A UKBB c.2311C>T (p.Leu771Phe) missense_variant Not In ClinVar 31.84 [23.1] ms 1 NA NA 3:38597847:A:G QTc SCN5A UKBB c.2144T>C (p.Met715Thr) missense_variant Not In ClinVar 28.72 [16.31] ms 2 4.01E-06 rs1246637863 3:38597883:C:T QTc SCN5A UKBB c.2108G>A (p.Trp703Ter) stop_gained Not In ClinVar 72.41 [23.06] ms 1 NA NA 3:38597896:A:G QTc SCN5A UKBB c.2095T>C (p.Cys699Arg) missense_variant Not In ClinVar 21.95 [23.06] ms 1 NA NA 3:38599046:G:A QTc SCN5A UKBB c.1895C>T (p.Thr632Met) missense_variant Not In ClinVar 18.94 [23.06] ms 1 1.23E-05 rs199473134 3:38604004:C:G QTc SCN5A TOPMed c.1598G>C (p.Arg533Pro) missense_variant Not In ClinVar 12.2 [21.86] ms 1 NA rs146848219 3:38604745:T:A QTc SCN5A TOPMed c.1502A>T (p.Asp501Val) missense_variant Not In ClinVar 12.89 [21.86] ms 1 NA rs199473117 3:38606139:A:T QTc SCN5A UKBB c.1150T>A (p.Ser384Thr) missense_variant Not In ClinVar 28.06 [23.07] ms 1 4.02E-06 rs747551321 3:38609742:C:T QTc SCN5A UKBB c.926G>A (p.Ser309Asn) missense_variant Not In ClinVar 16.48 [23.06] ms 1 4.03E-06 rs780325353 3:38609764:C:T QTc SCN5A TOPMed c.904G>A (p.Glu302Lys) missense_variant Not In ClinVar 18.53 [21.85] ms 1 NA rs1060501136 3:38609814:G:A QTc SCN5A UKBB c.854C>T (p.Thr285Ile) missense_variant Not In ClinVar 14.65 [23.07] ms 1 NA NA 3:38609835:T:C QTc SCN5A TOPMed c.833A>G (p.His278Arg) missense_variant Not In ClinVar 20.12 [21.91] ms 1 NA NA 3:38609917:C:T QTc SCN5A TOPMed c.751G>A (p.Ala251Thr) missense_variant Not In ClinVar 17.49 [21.88] ms 1 NA rs1274755542 3:38613775:A:G QTc SCN5A UKBB c.671T>C (p.Leu224Pro) missense_variant Not In ClinVar 17.56 [23.09] ms 1 NA NA 3:38620937:G:C QTc SCN5A UKBB c.517C>G (p.Leu173Val) missense_variant Not In ClinVar 35.55 [23.07] ms 1 NA rs1257767162 3:38622408:C:A QTc SCN5A UKBB c.474G>T (p.Lys158Asn) missense_variant Not In ClinVar 38.47 [23.07] ms 1 NA NA 3:38622419:G:T QTc SCN5A UKBB c.463C>A (p.Pro155Thr) missense_variant Not In ClinVar 17.63 [23.07] ms 1 NA NA 3:38622428:C:T QTc SCN5A UKBB c.454G>A (p.Asp152Asn) missense_variant Not In ClinVar 49.09 [22.97] ms 1 1.22E-05 rs778337208 3:38622471:G:C QTc SCN5A TOPMed c.411C>G (p.Ile137Met) missense_variant Not In ClinVar 20.93 [21.88] ms 1 NA rs1477081891 7:150946932:G:A QTc KCNH2 TOPMed c.3275C>T (p.Ser1092Phe) missense_variant Not In ClinVar 29.73 [22.32] ms 1 4.10E-06 rs147510453 7:150947032:C:A QTc KCNH2 UKBB c.3175G>T (p.Asp1059Tyr) missense_variant Not In ClinVar 21.88 [23.06] ms 1 NA NA 7:150947048:C:A QTc KCNH2 UKBB c.3159G>T (p.Glu1053Asp) missense_variant Not In ClinVar 27.55 [23.06] ms 1 NA NA 7:150947053:G:T QTc KCNH2 UKBB c.3154C>A (p.Leu1052Met) missense_variant Not In ClinVar 16.99 [23.07] ms 1 NA NA 7:150947352:T:A QTc KCNH2 UKBB c.3128A>T (p.Asp1043Val) missense_variant Not In ClinVar 13.63 [23.07] ms 1 NA rs962739782 7:150947392:G:T QTc KCNH2 UKBB c.3088C>A (p.Pro1030Thr) missense_variant Not In ClinVar 25.52 [23.08] ms 1 NA NA 7:150947716:G:C QTc KCNH2 UKBB c.2855C>G (p.Pro952Arg) missense_variant Not In ClinVar 20.11 [23.09] ms 1 NA rs765920319 7:150947747:C:T QTc KCNH2 UKBB c.2824G>A (p.Glu942Lys) missense_variant Not In ClinVar 15.05 [23.09] ms 1 NA NA 7:150947827:G:A QTc KCNH2 TOPMed c.2744C>T (p.Ala915Val) missense_variant Not In ClinVar 38.48 [22.22] ms 1 NA rs199473437 7:150947831:C:G QTc KCNH2 TOPMed c.2740G>C (p.Gly914Arg) missense_variant Not In ClinVar 26.15 [22.09] ms 1 NA NA 7:150948488:C:T QTc KCNH2 UKBB c.2648G>A (p.Arg883Gln) missense_variant Not In ClinVar 19.68 [16.31] ms 2 2.40E-05 rs748821862 7:150948525:A:C QTc KCNH2 TOPMed c.2611T>G (p.Ser871Ala) missense_variant Not In ClinVar 23.79 [22.34] ms 1 NA rs986136917 7:150948866:T:A QTc KCNH2 UKBB c.2582A>T (p.Asn861Ile) missense_variant Not In ClinVar 46.36 [16.31] ms 2 NA rs121912513 7:150948966:A:T QTc KCNH2 UKBB c.2482T>A (p.Cys828Ser) missense_variant Not In ClinVar 47.5 [23.06] ms 1 NA NA 7:150948991:G:T QTc KCNH2 TOPMed c.2457C>A (p.Asn819Lys) missense_variant Not In ClinVar 36.85 [21.87] ms 1 3.98E-06 rs768725008 7:150950255:G:A QTc KCNH2 UKBB c.2311C>T (p.His771Tyr) missense_variant Not In ClinVar 21.17 [23.07] ms 1 NA NA 7:150950282:G:A QTc KCNH2 UKBB c.2284C>T (p.His762Tyr) missense_variant Not In ClinVar 27.08 [16.31] ms 2 NA NA 7:150950956:C:T QTc KCNH2 UKBB c.2110G>A (p.Ala704Thr) missense_variant Not In ClinVar 28.26 [23.06] ms 1 3.98E-06 rs773524985 7:150951007:G:A QTc KCNH2 TOPMed c.2059C>T (p.His687Tyr) missense_variant Not In ClinVar 15.6 [21.85] ms 1 NA rs199472982 7:150951660:T:G QTc KCNH2 TOPMed c.1733A>C (p.His578Pro) missense_variant Not In ClinVar 12.84 [21.87] ms 1 NA rs794728376 7:150952477:A:G QTc KCNH2 TOPMed c.1505T>C (p.Met502Thr) missense_variant Not In ClinVar 17.23 [21.87] ms 1 NA rs867220128 7:150952519:C:T QTc KCNH2 TOPMed c.1463G>A (p.Arg488His) missense_variant Not In ClinVar 31.27 [13.18] ms 3 1.19E-05 rs546266276 7:150952607:C:T QTc KCNH2 UKBB c.1375G>A (p.Val459Met) missense_variant Not In ClinVar 16.57 [23.07] ms 1 NA NA 7:150952669:T:C QTc KCNH2 TOPMed c.1313A>G (p.Glu438Gly) missense_variant Not In ClinVar 16.08 [21.79] ms 1 NA rs1031735029 7:150952793:G:T QTc KCNH2 UKBB c.1189C>A (p.Arg397Ser) missense_variant Not In ClinVar 28.81 [23.06] ms 1 NA NA 7:150957500:C:T QTc KCNH2 UKBB c.919G>A (p.Ala307Thr) missense_variant Not In ClinVar 17.89 [23.08] ms 1 NA NA 7:150958100:C:T QTc KCNH2 TOPMed c.875G>A (p.Arg292His) missense_variant Not In ClinVar 27.96 [22.35] ms 1 NA rs1355952300 7:150958169:C:T QTc KCNH2 UKBB c.806G>A (p.Arg269Gln) missense_variant Not In ClinVar 14.98 [23.07] ms 1 NA NA 7:150958221:G:A QTc KCNH2 TOPMed c.754C>T (p.Arg252Trp) missense_variant Not In ClinVar 51.3 [13.23] ms 3 NA rs199472874 7:150958229:G:A QTc KCNH2 TOPMed c.746C>T (p.Pro249Leu) missense_variant Not In ClinVar 42.53 [22.26] ms 1 NA NA 7:150958238:C:T QTc KCNH2 UKBB c.737G>A (p.Gly246Asp) missense_variant Not In ClinVar 14.37 [23.06] ms 1 NA NA 7:150958312:G:T QTc KCNH2 TOPMed c.663C>A (p.His221Gln) missense_variant Not In ClinVar 16.96 [22.3] ms 1 NA rs752896394 7:150958315:G:C QTc KCNH2 UKBB c.660C>G (p.Asn220Lys) missense_variant Not In ClinVar 40.49 [23.11] ms 1 NA NA 7:150958383:C:G QTc KCNH2 TOPMed c.592G>C (p.Val198Leu) missense_variant Not In ClinVar 12.27 [21.88] ms 1 1.22E-05 rs768347062 7:150958399:C:CCCCGGGGCG QTc KCNH2 TOPMed c.567_575dup (p.Pro191_Ala193dup) inframe_insertion Not In ClinVar 13.58 [15.46] ms 2 NA rs1370496092 7:150958486:G:C QTc KCNH2 UKBB c.489C>G (p.Phe163Leu) missense_variant Not In ClinVar 16.15 [23.07] ms 1 NA rs1307704357 7:150959674:T:G QTc KCNH2 UKBB c.370A>C (p.Met124Leu) missense_variant Not In ClinVar 21 [23.07] ms 1 NA NA 7:150974783:C:T QTc KCNH2 TOPMed c.235G>A (p.Ala79Thr) missense_variant Not In ClinVar 27.63 [21.87] ms 1 4.37E-06 rs794728494 7:150974783:C:T QTc KCNH2 UKBB c.235G>A (p.Ala79Thr) missense_variant Not In ClinVar 16.73 [23.07] ms 1 4.37E-06 rs794728494 7:150974924:C:G QTc KCNH2 UKBB c.94G>C (p.Ala32Pro) missense_variant Not In ClinVar 21.18 [23.07] ms 1 NA NA 7:150974930:T:G QTc KCNH2 UKBB c.88A>C (p.Ile30Leu) missense_variant Not In ClinVar 18.19 [23.08] ms 1 NA NA 7:44145502:G:T HbA1c GCK UKBB c.1248C>A (p.His416Gln) missense_variant Not In ClinVar 0.59 [0.34] (%) 2 NA NA 7:44145522:C:G HbA1c GCK UKBB c.1228G>C (p.Gly410Arg) missense_variant Not In ClinVar 1.18 [0.49] (%) 1 NA NA 7:44145542:C:G HbA1c GCK UKBB c.1208G>C (p.Arg403Pro) missense_variant Not In ClinVar 0.33 [0.24] (%) 4 NA NA 7:44145560:C:T HbA1c GCK UKBB c.1190G>A (p.Arg397His) missense_variant Not In ClinVar 1.38 [0.49] (%) 1 NA NA 7:44145569:C:T HbA1c GCK FOURIER c.1181G>A (p.Arg394His) missense_variant Not In ClinVar 0.99 [0.89] (%) 1 NA rs1235227560 7:44145606:A:C HbA1c GCK FOURIER c.1144T>G (p.Cys382Gly) missense_variant Not In ClinVar 0.87 [0.89] (%) 1 NA NA 7:44145725:G:C HbA1c GCK FOURIER c.1025C>G (p.Thr342Arg) missense_variant Not In ClinVar 0.59 [0.89] (%) 1 2.88E-05 rs749208290 7:44146557:G:T HbA1c GCK UKBB c.925C>A (p.Leu309Ile) missense_variant Not In ClinVar 1.21 [0.37] (%) 2 NA NA 7:44146558:C:A HbA1c GCK UKBB c.924G>T (p.Arg308Ser) missense_variant Not In ClinVar 0.62 [0.49] (%) 1 NA NA 7:44146563:G:A HbA1c GCK UKBB c.919C>T (p.Leu307Phe) missense_variant Not In ClinVar 0.79 [0.49] (%) 1 NA NA 7:44146572:G:A HbA1c GCK UKBB c.910C>T (p.Leu304Phe) missense_variant Not In ClinVar 3.76 [0.49] (%) 1 NA NA 7:44146604:A:C HbA1c GCK UKBB c.878T>G (p.Ile293Arg) missense_variant Not In ClinVar 0.97 [0.49] (%) 1 NA NA 7:44147679:G:T HbA1c GCK FOURIER c.834C>A (p.Asp278Glu) missense_variant Not In ClinVar 0.67 [0.89] (%) 1 NA NA 7:44147798:G:C HbA1c GCK FOURIER c.715C>G (p.Gln239Glu) missense_variant Not In ClinVar 1.04 [0.89] (%) 1 NA NA 7:44147800:A:G HbA1c GCK UKBB c.713T>C (p.Met238Thr) missense_variant Not In ClinVar 0.55 [0.49] (%) 1 NA NA 7:44147809:A:G HbA1c GCK FOURIER c.704T>C (p.Met235Thr) missense_variant Not In ClinVar 1.26 [0.89] (%) 1 NA rs193922323 7:44147810:T:A HbA1c GCK UKBB c.703A>T (p.Met235Leu) missense_variant Not In ClinVar 0.98 [0.49] (%) 1 NA NA 7:44147816:A:G HbA1c GCK UKBB c.697T>C (p.Cys233Arg) missense_variant Not In ClinVar 1.37 [0.49] (%) 1 NA NA 7:44149781:A:T HbA1c GCK UKBB c.658T>A (p.Cys220Ser) missense_variant Not In ClinVar 0.89 [0.49] (%) 1 NA NA 7:44149785:A:T HbA1c GCK UKBB c.654T>A (p.His218Gln) missense_variant Not In ClinVar 0.82 [0.34] (%) 2 NA NA 7:44149797:G:GT HbA1c GCK UKBB c.641dup (p.Tyr214Ter) "stop_gained,frameshift_variant" Not In ClinVar 1.66 [0.49] (%) 1 NA NA 7:44149817:C:A HbA1c GCK UKBB c.622G>T (p.Ala208Ser) missense_variant Not In ClinVar 1.51 [0.49] (%) 1 NA NA 7:44149832:C:T HbA1c GCK UKBB c.607G>A (p.Val203Met) missense_variant Not In ClinVar 1.32 [0.49] (%) 1 NA NA 7:44149981:G:C HbA1c GCK UKBB c.567C>G (p.Ile189Met) missense_variant Not In ClinVar 1.33 [0.49] (%) 1 NA NA 7:44150961:C:A HbA1c GCK UKBB c.478G>T (p.Asp160Tyr) missense_variant Not In ClinVar 0.82 [0.49] (%) 1 NA NA 7:44150978:A:G HbA1c GCK UKBB c.461T>C (p.Val154Ala) missense_variant Not In ClinVar 0.99 [0.34] (%) 2 NA NA 7:44151010:C:A HbA1c GCK UKBB c.429G>T (p.Lys143Asn) missense_variant Not In ClinVar 0.47 [0.49] (%) 1 NA NA 7:44151033:T:C HbA1c GCK UKBB c.406A>G (p.Lys136Glu) missense_variant Not In ClinVar 0.71 [0.49] (%) 1 NA rs1330663908 7:44151048:A:G HbA1c GCK UKBB c.391T>C (p.Ser131Pro) missense_variant Not In ClinVar 1.17 [0.49] (%) 1 NA rs104894010 7:44152275:TCAGCAGTG:T HbA1c GCK UKBB c.351_358del (p.Thr118AspfsTer8) frameshift_variant Not In ClinVar 0.99 [0.49] (%) 1 NA NA 7:44152285:C:G HbA1c GCK UKBB c.349G>C (p.Gly117Arg) missense_variant Not In ClinVar 1.04 [0.49] (%) 1 NA NA 7:44152318:G:A HbA1c GCK UKBB c.316C>T (p.Gln106Ter) stop_gained Not In ClinVar 1.07 [0.34] (%) 2 NA NA 7:44153306:C:T HbA1c GCK UKBB c.203G>A (p.Gly68Asp) missense_variant Not In ClinVar 0.32 [0.1] (%) 25 1.99E-05 rs373418736 7:44153339:A:T HbA1c GCK UKBB c.170T>A (p.Met57Lys) missense_variant Not In ClinVar 1.36 [0.49] (%) 1 NA NA 7:44153367:C:T HbA1c GCK FOURIER c.142G>A (p.Glu48Lys) missense_variant Not In ClinVar 1.35 [0.63] (%) 2 2.78E-05 rs759514960 7:44153408:A:G HbA1c GCK UKBB c.101T>C (p.Met34Thr) missense_variant Not In ClinVar 0.42 [0.49] (%) 1 NA NA 7:44153438:T:G HbA1c GCK UKBB c.71A>C (p.Gln24Pro) missense_variant Not In ClinVar 0.38 [0.49] (%) 1 NA NA