ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 8991

HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_001267550.2(TTN):c.30683-2A>T rs886043892 0.00604
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His) rs113418909 0.00236
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_138289.4(ACTRT1):c.547dup (p.Met183fs) rs771087307 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001486.4(GCKR):c.1135dup (p.Thr379fs) rs573498430 0.00149
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter) rs149927060 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn) rs200278873 0.00075
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00074
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) rs55831733 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795 0.00072
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164 0.00071
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404 0.00063
NM_001195248.2(APTX):c.-5+1G>T rs146487634 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His) rs368075745 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_007098.4(CLTCL1):c.988G>A (p.Glu330Lys) rs199652160 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala) rs61743088 0.00050
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_025103.4(IFT74):c.120+2dup rs551515830 0.00048
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001378609.3(OTOGL):c.6019+5G>A rs368712763 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00045
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_020549.5(CHAT):c.605T>G (p.Met202Arg) rs376808313 0.00045
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) rs201406712 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_012073.5(CCT5):c.440A>G (p.His147Arg) rs118203986 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser) rs118204022 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NM_183065.4(TMEM107):c.*638C>T rs368022715 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys) rs141476300 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) rs141304187 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser) rs148259590 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738 0.00024
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001363711.2(DUOX2):c.1516G>A (p.Asp506Asn) rs200134167 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) rs139040517 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_001109878.2(TBX22):c.459-5T>A rs200060292 0.00020
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_024678.6(NARS2):c.1253G>A (p.Arg418His) rs535877562 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_001040108.2(MLH3):c.3563C>G (p.Ser1188Ter) rs193219754 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) rs137973334 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) rs142835989 0.00018
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter) rs561778744 0.00018
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln) rs147371584 0.00017
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His) rs35027371 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) rs202219343 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn) rs200406024 0.00016
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp) rs150712932 0.00016
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu) rs145888229 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) rs149652495 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu) rs560475969 0.00016
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001267550.2(TTN):c.38122+2T>C rs781392575 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His) rs778618710 0.00014
NM_003504.5(CDC45):c.1416C>T (p.His472=) rs190155337 0.00014
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982 0.00014
NM_016955.4(SEPSECS):c.548-1G>A rs200041461 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000237.3(LPL):c.286G>C (p.Val96Leu) rs373088068 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001001548.3(CD36):c.430-2A>G rs3211901 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His) rs146159479 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu) rs546495818 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_007374.3(SIX6):c.473A>C (p.Lys158Thr) rs749617848 0.00013
NM_014672.4(PRORP):c.1261C>T (p.Arg421Cys) rs147065101 0.00013
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) rs369010851 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_198253.3(TERT):c.2051A>G (p.Asp684Gly) rs776981958 0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) rs267606761 0.00012
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_001081.4(CUBN):c.348+2T>C rs146047781 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001292063.2(OTOG):c.2080+5G>C rs765790706 0.00012
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) rs200752089 0.00012
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000666.3(ACY1):c.480_493dup (p.His165fs) rs769746453 0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015466.4(PTPN23):c.3748G>A (p.Glu1250Lys) rs148689441 0.00011
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys) rs200019717 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) rs375761361 0.00010
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) rs745512025 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) rs747447519 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005560.6(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088 0.00010
NM_013251.4(TAC3):c.248A>G (p.His83Arg) rs143862988 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_017999.5(RNF31):c.2480G>A (p.Arg827His) rs377035972 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810 0.00009
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001126108.2(SLC12A3):c.602-16G>A rs750901478 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001486.4(GCKR):c.151C>T (p.Arg51Ter) rs375836361 0.00009
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) rs201068049 0.00009
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln) rs577689618 0.00009
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132 0.00009
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser) rs201230315 0.00009
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly) rs375215655 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_181882.3(PRX):c.2463C>T (p.Gly821=) rs368481955 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786 0.00008
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004525.3(LRP2):c.5120C>T (p.Ser1707Phe) rs745788682 0.00008
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) rs200129338 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_014639.4(SKIC3):c.642+1G>A rs538894487 0.00008
NM_015466.4(PTPN23):c.1748A>G (p.Lys583Arg) rs147293860 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro) rs201908493 0.00008
NM_020461.4(TUBGCP6):c.5263_5273dup (p.Arg1763fs) rs775659848 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln) rs201627097 0.00008
NM_144991.3(TSPEAR):c.1247A>C (p.Tyr416Ser) rs781913166 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser) rs145952475 0.00007
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met) rs143269114 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile) rs193922637 0.00007
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter) rs750210485 0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_015559.3(SETBP1):c.487-1G>A rs147805077 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_144988.4(ALG14):c.136+1G>C rs150550220 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) rs138048445 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000047.3(ARSL):c.1163G>A (p.Arg388His) rs754500316 0.00006
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) rs190612616 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln) rs762660751 0.00006
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val) rs137854864 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met) rs144691257 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00006
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln) rs141094096 0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.33742+1G>T rs772114165 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile) rs63750869 0.00006
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_005993.5(TBCD):c.2701C>T (p.Arg901Cys) rs778041055 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006996.3(SLC19A2):c.1063A>C (p.Lys355Gln) rs200879349 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_016222.4(DDX41):c.1016G>A (p.Arg339His) rs774698335 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_018006.5(TRMU):c.82+5G>C rs771076163 0.00006
NM_018109.4(MTPAP):c.1484T>G (p.Leu495Arg) rs1356166646 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) rs201386427 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) rs190706099 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met) rs371794611 0.00006
NM_153766.3(KCNJ1):c.577C>T (p.Arg193Ter) rs201707868 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) rs147954907 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_198076.6(COX20):c.197T>G (p.Phe66Cys) rs147700538 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile) rs531738678 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys) rs121918169 0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu) rs199473258 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) rs759208930 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val) rs748538823 0.00005
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu) rs201842856 0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu) rs368472521 0.00005
NM_001611.5(ACP5):c.131C>T (p.Thr44Met) rs369804864 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006915.3(RP2):c.8G>C (p.Cys3Ser) rs782344765 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_017547.4(FOXRED1):c.1051C>T (p.Arg351Cys) rs544236849 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) rs201751992 0.00005
NM_025103.4(IFT74):c.1685-1G>T rs200699377 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu) rs765990518 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_176869.3(PPA2):c.476C>T (p.Thr159Met) rs752062224 0.00005
NM_205850.3(SLC24A5):c.1361T>A (p.Leu454Ter) rs372932575 0.00005
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 0.00004
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357 0.00004
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) rs121912984 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000063.6(C2):c.1360+1G>A rs140225293 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.2986G>A (p.Gly996Arg) rs370474706 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 0.00004
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp) rs1801266 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) rs374840025 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000275.3(OCA2):c.2363C>T (p.Ser788Leu) rs147736385 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu) rs199473078 0.00004
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp) rs760978512 0.00004
NM_000369.5(TSHR):c.1556G>A (p.Arg519His) rs780018604 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp) rs562132292 0.00004
NM_000400.4(ERCC2):c.183+2T>A rs201127596 0.00004
NM_000400.4(ERCC2):c.776G>A (p.Cys259Tyr) rs370454709 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000436.4(OXCT1):c.1099+2T>C rs202242762 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) rs587778695 0.00004
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009 0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_000709.4(BCKDHA):c.996-26A>G rs757986569 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) rs377381866 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) rs746087016 0.00004
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) rs567875341 0.00004
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr) rs369432845 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) rs761852278 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys) rs200276550 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_001271696.3(ABCB7):c.868G>A (p.Gly290Ser) rs1133577 0.00004
NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys) rs777021265 0.00004
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His) rs782809283 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) rs199589510 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001371986.1(UNC80):c.4544C>T (p.Ala1515Val) rs750442854 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His) rs375412499 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) rs370678173 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001673.5(ASNS):c.1556G>A (p.Arg519His) rs568570377 0.00004
NM_001698.3(AUH):c.824C>T (p.Ala275Val) rs748318386 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002340.6(LSS):c.1054G>A (p.Gly352Arg) rs373046759 0.00004
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter) rs200809908 0.00004
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu) rs184522376 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys) rs377244239 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005993.5(TBCD):c.2609+5G>A rs367596929 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter) rs137853944 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_007262.5(PARK7):c.471_473del (p.Pro158del) rs764877312 0.00004
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) rs377278570 0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe) rs146453758 0.00004
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949 0.00004
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala) rs757665544 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491 0.00004
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg) rs770692989 0.00004
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln) rs769195904 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_016239.4(MYO15A):c.10202G>A (p.Arg3401His) rs370278266 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) rs782515431 0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_017827.4(SARS2):c.1347G>A (p.Thr449=) rs200404654 0.00004
NM_017827.4(SARS2):c.694C>T (p.Arg232Cys) rs201347156 0.00004
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser) rs766452597 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018192.4(P3H2):c.2004G>C (p.Trp668Cys) rs745507744 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met) rs371666279 0.00004
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His) rs370150532 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025215.6(PUS1):c.457G>A (p.Gly153Ser) rs372753711 0.00004
NM_032316.3(NICN1):c.*2328C>T rs386833677 0.00004
NM_032634.3(PIGO):c.3069+5G>A rs368953604 0.00004
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_032861.4(SERAC1):c.1763del (p.Val588fs) rs770661156 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_080473.5(GATA5):c.550G>C (p.Gly184Arg) rs782773387 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934 0.00004
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00004
NM_144991.3(TSPEAR):c.1697A>G (p.Tyr566Cys) rs782088056 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152743.4(BRAT1):c.491C>T (p.Ala164Val) rs771600489 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) rs751931568 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_176869.3(PPA2):c.379C>T (p.Arg127Cys) rs372302682 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala) rs372684079 0.00003
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val) rs146464862 0.00003
NM_000079.4(CHRNA1):c.235-323G>A rs750955953 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) rs374591570 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) rs757483045 0.00003
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly) rs202230698 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268 0.00003
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro) rs748143305 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) rs551140561 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) rs773957702 0.00003
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=) rs1047569721 0.00003
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) rs200462856 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000527.4(LDLR):c.-286C>G rs989307060 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1221C>T (p.His407=) rs778424518 0.00003
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys) rs773026490 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000709.4(BCKDHA):c.288+9C>T rs398123497 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001039141.3(TRIOBP):c.5317C>T (p.Arg1773Ter) rs368112491 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00003
NM_001079866.2(BCS1L):c.551G>A (p.Arg184His) rs779504946 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe) rs775782206 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln) rs1189945246 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001352514.2(HLCS):c.2121+1G>A rs1175936807 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001378477.3(NYX):c.1339G>T (p.Gly447Ter) rs764736358 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His) rs139464953 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001770.6(CD19):c.1635del (p.Gly546fs) rs774006181 0.00003
NM_001814.6(CTSC):c.815G>A (p.Arg272His) rs587777534 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) rs548046212 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) rs753444140 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) rs745646456 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) rs1230432769 0.00003
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro) rs138294250 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) rs773263889 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg) rs368222811 0.00003
NM_014297.5(ETHE1):c.476G>A (p.Arg159His) rs768669208 0.00003
NM_014585.6(SLC40A1):c.289G>A (p.Val97Met) rs886055361 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789 0.00003
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His) rs747962927 0.00003
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) rs752029771 0.00003
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu) rs781785267 0.00003
NM_017763.6(RNF43):c.1948C>T (p.Arg650Ter) rs371553160 0.00003
NM_017775.4(TTC19):c.7C>T (p.Arg3Trp) rs756830714 0.00003
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00003
NM_018451.5(CENPJ):c.2704C>T (p.Arg902Ter) rs374057641 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636 0.00003
NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter) rs752243957 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_022168.4(IFIH1):c.2045-1G>A rs748813106 0.00003
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln) rs751562376 0.00003
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772 0.00003
NM_024417.5(FDXR):c.248C>T (p.Ala83Val) rs756882582 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) rs730881878 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_052859.4(RFT1):c.200G>A (p.Arg67His) rs753527390 0.00003
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter) rs201059449 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_170784.3(MKKS):c.862G>A (p.Val288Ile) rs113032343 0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521 0.00003
NM_182476.3(COQ6):c.1139A>G (p.Asn380Ser) rs753489572 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NC_000011.10:g.5227261C>T rs753344875 0.00002
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.485G>A (p.Arg162His) rs754756970 0.00002
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601 0.00002
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000094.4(COL7A1):c.2710G>T (p.Gly904Cys) rs781144604 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000157.4(GBA1):c.901C>T (p.Arg301Cys) rs374117599 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000163.5(GHR):c.1802_1803del (p.Val601fs) rs777688795 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp) rs183024300 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000277.3(PAH):c.1136T>C (p.Val379Ala) rs746203167 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile) rs199572514 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.612-2A>G rs370438420 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) rs200870056 0.00002
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser) rs764868582 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) rs886043066 0.00002
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000527.4(LDLR):c.-139C>G rs879254371 0.00002
NM_000527.4(LDLR):c.-153C>T rs879254366 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln) rs372513400 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp) rs779733902 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000553.6(WRN):c.3460-7T>A rs1334937558 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) rs148346337 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_000821.7(GGCX):c.2110C>T (p.Arg704Ter) rs772336725 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn) rs776996552 0.00002
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro) rs759857078 0.00002
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met) rs375234607 0.00002
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) rs375933774 0.00002
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter) rs1403296082 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser) rs1057518766 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523 0.00002