ClinVar Miner

List of variants reported as uncertain significance for bilirubin metabolism disease

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 753
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HGVS dbSNP gnomAD frequency
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000392.5(ABCC2):c.34-8G>A rs17222610 0.00477
NM_001374385.1(ATP8B1):c.-51C>T rs150844949 0.00431
NM_018668.5(VPS33B):c.*125C>T rs76401688 0.00431
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr) rs17222632 0.00388
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 0.00350
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_019844.4(SLCO1B3):c.275A>G (p.His92Arg) rs144099822 0.00250
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val) rs57325543 0.00242
NM_032830.3(UTP4):c.302G>T (p.Gly101Val) rs144369314 0.00227
NM_001374385.1(ATP8B1):c.*734A>T rs528645513 0.00206
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00201
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) rs146623116 0.00184
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00173
NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser) rs17222540 0.00165
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) rs17222624 0.00155
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_032830.3(UTP4):c.1693C>T (p.Arg565Trp) rs119465999 0.00150
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln) rs145303578 0.00116
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639 0.00114
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) rs145750280 0.00111
NM_032830.3(UTP4):c.1183T>C (p.Cys395Arg) rs138998503 0.00106
NM_019844.4(SLCO1B3):c.1855G>A (p.Val619Ile) rs202234562 0.00105
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
NM_019844.4(SLCO1B3):c.645A>G (p.Ile215Met) rs142673817 0.00097
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_006446.5(SLCO1B1):c.758G>A (p.Arg253Gln) rs11045853 0.00093
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_032830.3(UTP4):c.1083A>G (p.Gly361=) rs34747774 0.00084
NM_019844.4(SLCO1B3):c.*622G>A rs555196020 0.00083
NM_001374385.1(ATP8B1):c.*503G>T rs187993447 0.00079
NM_006446.5(SLCO1B1):c.*481T>C rs71581986 0.00078
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu) rs141413284 0.00075
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) rs8187788 0.00074
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00073
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_019844.4(SLCO1B3):c.*509T>C rs554075376 0.00065
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His) rs147642236 0.00063
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247 0.00057
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_032830.3(UTP4):c.1376G>A (p.Gly459Glu) rs141398922 0.00056
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00052
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_019844.4(SLCO1B3):c.1366C>T (p.Leu456Phe) rs61736817 0.00050
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879 0.00046
NM_019844.4(SLCO1B3):c.988A>G (p.Lys330Glu) rs146780296 0.00045
NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln) rs145672804 0.00044
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_000392.5(ABCC2):c.150C>T (p.His50=) rs200595851 0.00041
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) rs57307513 0.00041
NM_000392.5(ABCC2):c.3008G>T (p.Trp1003Leu) rs147566977 0.00040
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486 0.00039
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259 0.00038
NM_000392.5(ABCC2):c.1250T>C (p.Val417Ala) rs199595780 0.00036
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_019844.4(SLCO1B3):c.1610A>G (p.Tyr537Cys) rs150998576 0.00034
NM_019844.4(SLCO1B3):c.1712C>G (p.Ala571Gly) rs76963574 0.00034
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys) rs377170187 0.00033
NM_001374385.1(ATP8B1):c.*735T>A rs561633356 0.00032
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp) rs142231389 0.00032
NM_001374385.1(ATP8B1):c.555-3T>C rs367948617 0.00032
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_019844.4(SLCO1B3):c.*540G>A rs758379038 0.00031
NM_019844.4(SLCO1B3):c.1309G>A (p.Gly437Ser) rs61673910 0.00031
NM_001374385.1(ATP8B1):c.*968T>A rs886054002 0.00029
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_018668.5(VPS33B):c.136A>T (p.Met46Leu) rs202141764 0.00029
NM_019844.4(SLCO1B3):c.727+10A>G rs201736270 0.00029
NM_003742.4(ABCB11):c.1434+14A>G rs201816834 0.00028
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His) rs144521346 0.00026
NM_001206979.2(NR1H4):c.1A>G (p.Met1Val) rs138943609 0.00026
NM_019844.4(SLCO1B3):c.1865+11G>A rs376331163 0.00026
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) rs140592811 0.00025
NM_001374385.1(ATP8B1):c.*1945C>T rs779489096 0.00025
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_032830.3(UTP4):c.1287+6T>C rs201299923 0.00025
NM_000392.5(ABCC2):c.-43A>G rs765935481 0.00024
NM_001374385.1(ATP8B1):c.*296C>T rs553050447 0.00024
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_019844.4(SLCO1B3):c.*641C>T rs1024598614 0.00024
NM_032830.3(UTP4):c.846G>A (p.Pro282=) rs150182351 0.00024
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_018668.5(VPS33B):c.240-9C>T rs781107857 0.00023
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn) rs149593061 0.00022
NM_000392.5(ABCC2):c.1696G>A (p.Val566Ile) rs145520251 0.00022
NM_000392.5(ABCC2):c.33+13A>G rs368321703 0.00022
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) rs139276234 0.00022
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) rs56296335 0.00021
NM_006446.5(SLCO1B1):c.317T>C (p.Ile106Thr) rs200227560 0.00021
NM_018668.5(VPS33B):c.-131G>A rs755401805 0.00021
NM_018668.5(VPS33B):c.133C>A (p.Leu45Ile) rs199874738 0.00021
NM_000392.5(ABCC2):c.-40T>C rs200685599 0.00020
NM_000392.5(ABCC2):c.577-11G>T rs200883270 0.00019
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000392.5(ABCC2):c.1209+14G>A rs201946946 0.00018
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) rs144398632 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) rs114982090 0.00018
NM_000392.5(ABCC2):c.2366C>T (p.Ser789Phe) rs56220353 0.00017
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789 0.00017
NM_006446.5(SLCO1B1):c.1034C>T (p.Thr345Met) rs61760243 0.00017
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) rs199504845 0.00016
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) rs767764203 0.00016
NM_001374385.1(ATP8B1):c.*242T>C rs757204179 0.00016
NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr) rs202100663 0.00016
NM_006446.5(SLCO1B1):c.1622A>T (p.Gln541Leu) rs71581988 0.00016
NM_019844.4(SLCO1B3):c.1313T>C (p.Leu438Pro) rs189943255 0.00016
NM_019844.4(SLCO1B3):c.853_856del (p.Lys285fs) rs554933268 0.00016
NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg) rs199859869 0.00015
NM_000392.5(ABCC2):c.764G>A (p.Arg255Gln) rs139964853 0.00015
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) rs756725213 0.00015
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) rs200174512 0.00015
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_019844.4(SLCO1B3):c.592G>A (p.Asp198Asn) rs368649517 0.00015
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) rs8187811 0.00014
NM_001374385.1(ATP8B1):c.*1083T>C rs138676107 0.00014
NM_001374385.1(ATP8B1):c.*340C>T rs533724646 0.00014
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647 0.00014
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) rs201366118 0.00014
NM_006446.5(SLCO1B1):c.170G>A (p.Arg57Gln) rs61760182 0.00014
NM_019844.4(SLCO1B3):c.*562G>T rs545934577 0.00014
NM_019844.4(SLCO1B3):c.1332-15A>G rs201114863 0.00014
NM_000392.5(ABCC2):c.4454A>G (p.His1485Arg) rs780026074 0.00013
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr) rs199514707 0.00013
NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) rs200857579 0.00013
NM_018668.5(VPS33B):c.-137A>G rs886051557 0.00013
NM_018668.5(VPS33B):c.1171-6A>G rs370691219 0.00013
NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu) rs150039066 0.00013
NM_019844.4(SLCO1B3):c.413G>T (p.Ser138Ile) rs369529563 0.00013
NM_000392.5(ABCC2):c.2964G>T (p.Met988Ile) rs145105011 0.00012
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) rs201212360 0.00012
NM_000392.5(ABCC2):c.3357C>T (p.Ala1119=) rs376532575 0.00012
NM_001374385.1(ATP8B1):c.*1676G>A rs932274962 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982 0.00012
NM_019844.4(SLCO1B3):c.971-2A>G rs140033394 0.00012
NM_000392.5(ABCC2):c.3239T>C (p.Ile1080Thr) rs138221862 0.00011
NM_000392.5(ABCC2):c.3888C>G (p.Ser1296Arg) rs143990242 0.00011
NM_000392.5(ABCC2):c.56C>T (p.Pro19Leu) rs141278106 0.00011
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=) rs138183896 0.00011
NM_001374385.1(ATP8B1):c.*426G>A rs192231911 0.00011
NM_003742.4(ABCB11):c.1638+6C>G rs886055067 0.00011
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_006446.5(SLCO1B1):c.1309G>A (p.Gly437Arg) rs142965323 0.00011
NM_006446.5(SLCO1B1):c.1322C>A (p.Thr441Asn) rs141779296 0.00011
NM_006446.5(SLCO1B1):c.1865C>T (p.Ser622Leu) rs368052440 0.00011
NM_006446.5(SLCO1B1):c.485G>A (p.Cys162Tyr) rs138374684 0.00011
NM_018668.5(VPS33B):c.*261T>A rs1046418367 0.00011
NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His) rs200539802 0.00011
NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val) rs772482844 0.00010
NM_001374385.1(ATP8B1):c.2261C>T (p.Thr754Ile) rs201392345 0.00010
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=) rs374701109 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_006446.5(SLCO1B1):c.184T>C (p.Ser62Pro) rs144164853 0.00010
NM_006446.5(SLCO1B1):c.2032C>T (p.His678Tyr) rs200995543 0.00010
NM_006446.5(SLCO1B1):c.455G>C (p.Arg152Thr) rs145144129 0.00010
NM_018668.5(VPS33B):c.1105+10G>A rs370555380 0.00010
NM_019844.4(SLCO1B3):c.542G>A (p.Arg181His) rs180875376 0.00010
NM_032830.3(UTP4):c.1165-7T>C rs200957784 0.00010
NM_032830.3(UTP4):c.1444+6A>C rs201088638 0.00010
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) rs150472537 0.00009
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) rs532332220 0.00009
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) rs143033456 0.00009
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00009
NM_001374385.1(ATP8B1):c.*1133A>G rs997437548 0.00009
NM_001374385.1(ATP8B1):c.*676G>A rs959189849 0.00009
NM_003742.4(ABCB11):c.*316G>A rs560085646 0.00009
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val) rs372757355 0.00009
NM_006446.5(SLCO1B1):c.1877T>A (p.Leu626Ter) rs183624077 0.00009
NM_018668.5(VPS33B):c.499-3C>G rs201919090 0.00009
NM_019844.4(SLCO1B3):c.*610A>G rs751963988 0.00009
NM_019844.4(SLCO1B3):c.1272A>G (p.Leu424=) rs4149143 0.00009
NM_032830.3(UTP4):c.1451T>G (p.Val484Gly) rs199824083 0.00009
NM_032830.3(UTP4):c.1536C>T (p.Asn512=) rs144493973 0.00009
NM_032830.3(UTP4):c.1904G>A (p.Arg635Lys) rs761295812 0.00009
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_006446.5(SLCO1B1):c.2040C>A (p.Val680=) rs200467000 0.00008
NM_006446.5(SLCO1B1):c.66A>T (p.Arg22Ser) rs142087529 0.00008
NM_006446.5(SLCO1B1):c.703G>A (p.Val235Met) rs147421160 0.00008
NM_019844.4(SLCO1B3):c.*362A>C rs1005654068 0.00008
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_019844.4(SLCO1B3):c.560C>G (p.Pro187Arg) rs368572652 0.00008
NM_000463.3(UGT1A1):c.*84T>C rs78684540 0.00007
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) rs370790922 0.00007
NM_001206979.2(NR1H4):c.268C>T (p.Arg90Cys) rs150295715 0.00007
NM_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val) rs369553314 0.00007
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) rs372886308 0.00007
NM_018668.5(VPS33B):c.*113G>A rs539260496 0.00007
NM_019844.4(SLCO1B3):c.1101C>T (p.Tyr367=) rs777458586 0.00007
NM_000392.5(ABCC2):c.1179G>A (p.Arg393=) rs200104823 0.00006
NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe) rs375147383 0.00006
NM_000392.5(ABCC2):c.3147C>T (p.Phe1049=) rs777983705 0.00006
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217 0.00006
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00006
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) rs376825608 0.00006
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00006
NM_000463.3(UGT1A1):c.*269C>T rs762669023 0.00006
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) rs36076514 0.00006
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) rs775532505 0.00006
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met) rs375974892 0.00006
NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=) rs776385207 0.00006
NM_001374385.1(ATP8B1):c.310G>A (p.Ala104Thr) rs756439394 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_006446.5(SLCO1B1):c.639T>A (p.Asn213Lys) rs752897663 0.00006
NM_018668.4(VPS33B):c.*346A>T rs775697883 0.00006
NM_018668.5(VPS33B):c.1775-14A>G rs374202621 0.00006
NM_018668.5(VPS33B):c.662G>A (p.Arg221Gln) rs377754864 0.00006
NM_018668.5(VPS33B):c.680A>G (p.His227Arg) rs760894269 0.00006
NM_019844.4(SLCO1B3):c.*8T>C rs372418887 0.00006
NM_019844.4(SLCO1B3):c.1217G>A (p.Gly406Glu) rs374932005 0.00006
NM_019844.4(SLCO1B3):c.1308C>T (p.Ala436=) rs147428265 0.00006
NM_000392.5(ABCC2):c.214G>A (p.Val72Ile) rs148791847 0.00005
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) rs145056464 0.00005
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu) rs747942373 0.00005
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) rs199766420 0.00005
NM_001374385.1(ATP8B1):c.*1524T>C rs886054000 0.00005
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr) rs372806297 0.00005
NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr) rs146405857 0.00005
NM_006446.5(SLCO1B1):c.1135+14T>G rs140270687 0.00005
NM_019844.4(SLCO1B3):c.1074C>T (p.Tyr358=) rs145036538 0.00005
NM_000392.5(ABCC2):c.1031+4A>G rs373384181 0.00004
NM_000392.5(ABCC2):c.1032-14C>A rs754368880 0.00004
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) rs781337846 0.00004
NM_000392.5(ABCC2):c.3259-11C>T rs774679828 0.00004
NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg) rs138663047 0.00004
NM_000392.5(ABCC2):c.577-3C>T rs370534491 0.00004
NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu) rs587784536 0.00004
NM_001080467.3(MYO5B):c.2995C>T (p.Arg999Cys) rs755870645 0.00004
NM_001374385.1(ATP8B1):c.*776G>A rs886054003 0.00004
NM_001374385.1(ATP8B1):c.*799G>A rs376678355 0.00004
NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=) rs35969033 0.00004
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser) rs755385749 0.00004
NM_001374385.1(ATP8B1):c.14G>A (p.Arg5Lys) rs960179853 0.00004
NM_001374385.1(ATP8B1):c.164G>A (p.Arg55Gln) rs768114205 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=) rs201150730 0.00004
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His) rs148715351 0.00004
NM_001374385.1(ATP8B1):c.3401-13A>G rs747437391 0.00004
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met) rs369011228 0.00004
NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp) rs951486880 0.00004
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs553076953 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) rs746223152 0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) rs142684074 0.00004
NM_006446.5(SLCO1B1):c.1983T>C (p.Asn661=) rs768771124 0.00004
NM_006446.5(SLCO1B1):c.695A>C (p.Lys232Thr) rs374328647 0.00004
NM_018668.5(VPS33B):c.-275C>G rs934677403 0.00004
NM_018668.5(VPS33B):c.-299T>G rs773762275 0.00004
NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly) rs868354713 0.00004
NM_018668.5(VPS33B):c.868C>T (p.Arg290Trp) rs750350100 0.00004
NM_018668.5(VPS33B):c.941G>A (p.Arg314His) rs201698361 0.00004
NM_019844.4(SLCO1B3):c.*136C>T rs766036895 0.00004
NM_019844.4(SLCO1B3):c.176T>C (p.Phe59Ser) rs778668812 0.00004
NM_019844.4(SLCO1B3):c.26A>C (p.Lys9Thr) rs200793002 0.00004
NM_019844.4(SLCO1B3):c.99C>T (p.Ala33=) rs144143469 0.00004
NM_032830.3(UTP4):c.*67A>C rs1015958388 0.00004
NM_000392.5(ABCC2):c.2020G>A (p.Gly674Ser) rs778892744 0.00003
NM_000392.5(ABCC2):c.4447T>G (p.Phe1483Val) rs886046621 0.00003
NM_000392.5(ABCC2):c.732G>A (p.Thr244=) rs754060673 0.00003
NM_000463.3(UGT1A1):c.*461G>T rs142810023 0.00003
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) rs55750087 0.00003
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) rs778766461 0.00003
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala) rs140365717 0.00003
NM_001374385.1(ATP8B1):c.*1095A>T rs886054001 0.00003
NM_001374385.1(ATP8B1):c.*132C>G rs745786597 0.00003
NM_001374385.1(ATP8B1):c.*531C>T rs758654293 0.00003
NM_001374385.1(ATP8B1):c.-65C>T rs886054016 0.00003
NM_001374385.1(ATP8B1):c.1156T>G (p.Phe386Val) rs767126171 0.00003
NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=) rs370484798 0.00003
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile) rs200648620 0.00003
NM_001374385.1(ATP8B1):c.2939A>G (p.Tyr980Cys) rs886054010 0.00003
NM_001374385.1(ATP8B1):c.3481G>A (p.Val1161Ile) rs771155047 0.00003
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=) rs754912569 0.00003
NM_003742.4(ABCB11):c.*252T>A rs886055060 0.00003
NM_003742.4(ABCB11):c.-64A>G rs1036640978 0.00003
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=) rs369132677 0.00003
NM_003742.4(ABCB11):c.1198-7A>C rs752532486 0.00003
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln) rs371656014 0.00003
NM_003742.4(ABCB11):c.1639-4C>T rs780324076 0.00003
NM_003742.4(ABCB11):c.1639-6A>G rs751634104 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_004817.4(TJP2):c.428T>C (p.Met143Thr) rs1011824757 0.00003
NM_006446.5(SLCO1B1):c.*197T>C rs886049146 0.00003
NM_006446.5(SLCO1B1):c.-62+1G>A rs753044871 0.00003
NM_006446.5(SLCO1B1):c.1327G>C (p.Asp443His) rs150573622 0.00003
NM_006446.5(SLCO1B1):c.169C>T (p.Arg57Trp) rs139257324 0.00003
NM_006446.5(SLCO1B1):c.1739G>A (p.Arg580Gln) rs763991908 0.00003
NM_006446.5(SLCO1B1):c.1976C>G (p.Ser659Ter) rs745619193 0.00003
NM_019844.4(SLCO1B3):c.*307T>C rs886049140 0.00003
NM_019844.4(SLCO1B3):c.-181+15G>C rs59793824 0.00003
NM_019844.4(SLCO1B3):c.1135+8A>G rs372493449 0.00003
NM_019844.4(SLCO1B3):c.1598A>G (p.Lys533Arg) rs751785190 0.00003
NM_019844.4(SLCO1B3):c.227G>T (p.Gly76Val) rs368091191 0.00003
NM_019844.4(SLCO1B3):c.973T>A (p.Phe325Ile) rs775841876 0.00003
NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile) rs191954987 0.00002
NM_000392.5(ABCC2):c.169A>C (p.Lys57Gln) rs145346144 0.00002
NM_000392.5(ABCC2):c.1855G>T (p.Gly619Trp) rs771619987 0.00002
NM_000392.5(ABCC2):c.2155A>G (p.Ile719Val) rs371103752 0.00002
NM_000392.5(ABCC2):c.2755T>A (p.Ser919Thr) rs775944091 0.00002
NM_000392.5(ABCC2):c.3068G>T (p.Arg1023Ile) rs374311166 0.00002
NM_000392.5(ABCC2):c.3256G>A (p.Gly1086Ser) rs769152380 0.00002
NM_000392.5(ABCC2):c.3732T>G (p.Asn1244Lys) rs757141905 0.00002
NM_000392.5(ABCC2):c.3973G>A (p.Gly1325Ser) rs759452729 0.00002
NM_000392.5(ABCC2):c.4443C>T (p.Asn1481=) rs536104796 0.00002
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) rs886062459 0.00002
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) rs774347020 0.00002
NM_000463.3(UGT1A1):c.*419T>C rs34942353 0.00002
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn) rs772037816 0.00002
NM_001080467.3(MYO5B):c.3738G>C (p.Gln1246His) rs530758620 0.00002
NM_001374385.1(ATP8B1):c.*1403G>A rs1277260486 0.00002
NM_001374385.1(ATP8B1):c.*1629T>C rs367994135 0.00002
NM_001374385.1(ATP8B1):c.*1851G>C rs1425339940 0.00002
NM_001374385.1(ATP8B1):c.1029+5T>C rs200663890 0.00002
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=) rs375842507 0.00002
NM_001374385.1(ATP8B1):c.854G>T (p.Ser285Ile) rs754073606 0.00002
NM_003742.4(ABCB11):c.-78C>T rs746730049 0.00002
NM_003742.4(ABCB11):c.1435-11A>G rs762147612 0.00002
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) rs886055066 0.00002
NM_006446.5(SLCO1B1):c.1829G>A (p.Arg610His) rs769518588 0.00002
NM_018668.5(VPS33B):c.*10C>T rs759825013 0.00002
NM_018668.5(VPS33B):c.916C>T (p.Arg306Trp) rs142949901 0.00002
NM_019844.4(SLCO1B3):c.-145G>C rs1184025537 0.00002
NM_019844.4(SLCO1B3):c.1747+5G>A rs748582575 0.00002
NM_019844.4(SLCO1B3):c.471A>G (p.Ile157Met) rs748685876 0.00002
NM_032830.3(UTP4):c.1610A>G (p.Asn537Ser) rs138922775 0.00002
NM_032830.3(UTP4):c.531C>T (p.Ser177=) rs370682701 0.00002
NM_032830.3(UTP4):c.57C>A (p.Ile19=) rs141243868 0.00002
NM_032830.3(UTP4):c.871C>T (p.Arg291Cys) rs773025409 0.00002
NM_000392.5(ABCC2):c.*138T>C rs1326370975 0.00001
NM_000392.5(ABCC2):c.*205C>T rs551482378 0.00001
NM_000392.5(ABCC2):c.1008G>A (p.Thr336=) rs761197359 0.00001
NM_000392.5(ABCC2):c.1209+15G>A rs886046618 0.00001
NM_000392.5(ABCC2):c.1312A>G (p.Met438Val) rs769259115 0.00001
NM_000392.5(ABCC2):c.2076C>T (p.His692=) rs552538259 0.00001
NM_000392.5(ABCC2):c.2296A>C (p.Lys766Gln) rs1369784733 0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000392.5(ABCC2):c.2588T>C (p.Leu863Pro) rs201820826 0.00001
NM_000392.5(ABCC2):c.2747+12A>G rs368108231 0.00001
NM_000392.5(ABCC2):c.2963T>A (p.Met988Lys) rs748479566 0.00001
NM_000392.5(ABCC2):c.3025A>G (p.Ile1009Val) rs774137965 0.00001
NM_000392.5(ABCC2):c.3104-1G>A rs1054194575 0.00001
NM_000392.5(ABCC2):c.3742-12G>C rs1232223149 0.00001
NM_000392.5(ABCC2):c.3988-15G>C rs746609972 0.00001
NM_000392.5(ABCC2):c.57G>A (p.Pro19=) rs772618481 0.00001
NM_000392.5(ABCC2):c.606T>C (p.Ser202=) rs769209663 0.00001
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) rs761918535 0.00001
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) rs367709575 0.00001
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) rs747255117 0.00001
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=) rs763404399 0.00001
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) rs8187807 0.00001
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) rs747453583 0.00001
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) rs370310867 0.00001
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln) rs863225299 0.00001
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) rs756070393 0.00001
NM_000463.3(UGT1A1):c.*188T>G rs200041554 0.00001
NM_000463.3(UGT1A1):c.*201G>A rs541532523 0.00001
NM_000463.3(UGT1A1):c.*674G>A rs1473113676 0.00001
NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln) rs780354743 0.00001
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) rs267599273 0.00001
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val) rs886044683 0.00001
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) rs769720139 0.00001
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) rs770564267 0.00001
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) rs769310438 0.00001
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=) rs374655757 0.00001
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) rs587784538 0.00001
NM_000463.3(UGT1A1):c.719G>A (p.Arg240Lys) rs145912061 0.00001
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly) rs754213125 0.00001
NM_001080467.3(MYO5B):c.1325T>C (p.Phe442Ser) rs1315323909 0.00001
NM_001193315.2(VIPAS39):c.494G>A (p.Arg165Gln) rs376797384 0.00001
NM_001374385.1(ATP8B1):c.*1546A>C rs1383423114 0.00001
NM_001374385.1(ATP8B1):c.*506G>A rs1054288138 0.00001
NM_001374385.1(ATP8B1):c.*899C>T rs887562438 0.00001
NM_001374385.1(ATP8B1):c.-35C>A rs886054015 0.00001
NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=) rs1179570288 0.00001
NM_001374385.1(ATP8B1):c.1278C>T (p.Tyr426=) rs780518569 0.00001
NM_001374385.1(ATP8B1):c.1429+14G>A rs886054012 0.00001
NM_001374385.1(ATP8B1):c.1819+10C>T rs767885426 0.00001
NM_001374385.1(ATP8B1):c.1933-12T>A rs758782679 0.00001
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val) rs1555689790 0.00001
NM_001374385.1(ATP8B1):c.2322T>A (p.Asn774Lys) rs757090822 0.00001
NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His) rs745546266 0.00001
NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=) rs199716374 0.00001
NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=) rs758180192 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.2968G>A (p.Val990Met) rs747325752 0.00001
NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=) rs140005450 0.00001
NM_001374385.1(ATP8B1):c.340G>C (p.Glu114Gln) rs753142591 0.00001
NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=) rs778786114 0.00001
NM_001374385.1(ATP8B1):c.3673C>A (p.Arg1225Ser) rs774849132 0.00001
NM_001374385.1(ATP8B1):c.394-7C>T rs370252509 0.00001
NM_001374385.1(ATP8B1):c.910G>A (p.Asp304Asn) rs372749108 0.00001
NM_003742.4(ABCB11):c.*533C>A rs886055058 0.00001
NM_003742.4(ABCB11):c.*640G>C rs1351596156 0.00001
NM_003742.4(ABCB11):c.*670G>C rs1469256614 0.00001
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser) rs750904445 0.00001
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) rs371091982 0.00001
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=) rs747864916 0.00001
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) rs765678675 0.00001
NM_003742.4(ABCB11):c.1553A>G (p.Tyr518Cys) rs770750597 0.00001
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=) rs1244153418 0.00001
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=) rs886055065 0.00001
NM_003742.4(ABCB11):c.2075+7T>A rs768511849 0.00001
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=) rs762791891 0.00001
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp) rs369865521 0.00001
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr) rs372228971 0.00001
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg) rs745557569 0.00001
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=) rs947068240 0.00001
NM_003742.4(ABCB11):c.3057-12G>A rs748204442 0.00001
NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe) rs773929580 0.00001
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=) rs1454008881 0.00001
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) rs772714766 0.00001
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala) rs769192036 0.00001
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met) rs780956310 0.00001
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) rs201693189 0.00001
NM_003742.4(ABCB11):c.681C>A (p.Thr227=) rs1401834885 0.00001
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met) rs886055069 0.00001
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) rs1694321895 0.00001
NM_006446.5(SLCO1B1):c.*126T>C rs1352089009 0.00001
NM_006446.5(SLCO1B1):c.-104A>G rs886049143 0.00001
NM_006446.5(SLCO1B1):c.-3A>C rs180888034 0.00001
NM_006446.5(SLCO1B1):c.1015G>C (p.Val339Leu) rs758315826 0.00001
NM_006446.5(SLCO1B1):c.1032G>C (p.Leu344Phe) rs960742177 0.00001
NM_006446.5(SLCO1B1):c.124A>C (p.Thr42Pro) rs780511571 0.00001
NM_006446.5(SLCO1B1):c.1465T>A (p.Cys489Ser) rs144733213 0.00001
NM_006446.5(SLCO1B1):c.1498-15T>C rs763873797 0.00001
NM_006446.5(SLCO1B1):c.1564G>C (p.Gly522Arg) rs112909948 0.00001
NM_006446.5(SLCO1B1):c.1592C>G (p.Thr531Arg) rs908931153 0.00001
NM_006446.5(SLCO1B1):c.314G>T (p.Gly105Val) rs773434165 0.00001
NM_006446.5(SLCO1B1):c.84+2T>G rs1017205455 0.00001
NM_018668.5(VPS33B):c.1165C>T (p.Arg389Trp) rs778274271 0.00001
NM_018668.5(VPS33B):c.1192C>T (p.Arg398Cys) rs943813904 0.00001
NM_018668.5(VPS33B):c.1685G>A (p.Ser562Asn) rs566630364 0.00001
NM_018668.5(VPS33B):c.404-14C>G rs886051556 0.00001
NM_018668.5(VPS33B):c.44T>C (p.Phe15Ser) rs748609085 0.00001
NM_018668.5(VPS33B):c.75G>A (p.Gln25=) rs1289650070 0.00001
NM_019844.4(SLCO1B3):c.1004A>G (p.Asn335Ser) rs886049136 0.00001
NM_019844.4(SLCO1B3):c.148A>G (p.Ile50Val) rs761530247 0.00001
NM_019844.4(SLCO1B3):c.1741A>G (p.Thr581Ala) rs779952599 0.00001
NM_019844.4(SLCO1B3):c.1747+3A>G rs533193038 0.00001
NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn) rs775442032 0.00001
NM_019844.4(SLCO1B3):c.683C>A (p.Ser228Tyr) rs760497665 0.00001
NM_019844.4(SLCO1B3):c.712G>A (p.Gly238Arg) rs747595430 0.00001
NM_019844.4(SLCO1B3):c.757C>T (p.Arg253Cys) rs767676951 0.00001
NM_032830.3(UTP4):c.1002+15C>T rs370811526 0.00001
NM_032830.3(UTP4):c.1249C>T (p.Arg417Trp) rs772154514 0.00001
NM_032830.3(UTP4):c.1621C>T (p.Leu541Phe) rs1031659078 0.00001
NM_032830.3(UTP4):c.1677G>T (p.Gln559His) rs1963675848 0.00001
NM_032830.3(UTP4):c.739-6C>G rs373200948 0.00001
NM_000138.5(FBN1):c.2419+3delinsTTTTAGATCCATATTTTAG rs2141304945
NM_000392.5(ABCC2):c.*116del rs777704351
NM_000392.5(ABCC2):c.-89G>A rs2037637000
NM_000392.5(ABCC2):c.108C>T (p.Pro36=) rs886046617
NM_000392.5(ABCC2):c.1233C>T (p.Ala411=) rs886046619
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter) rs776087856
NM_000392.5(ABCC2):c.1346T>C (p.Val449Ala) rs71488021
NM_000392.5(ABCC2):c.1389C>T (p.Val463=) rs2038059933
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=) rs4267009
NM_000392.5(ABCC2):c.170A>G (p.Lys57Arg) rs761468521
NM_000392.5(ABCC2):c.1783A>G (p.Met595Val) rs762486508
NM_000392.5(ABCC2):c.2077G>C (p.Gly693Arg)
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2312T>C (p.Leu771Pro)
NM_000392.5(ABCC2):c.2439+12T>C rs766320733
NM_000392.5(ABCC2):c.2501T>C (p.Leu834Pro) rs2038480826
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.2997G>A (p.Trp999Ter) rs572224582
NM_000392.5(ABCC2):c.3298C>T (p.Arg1100Cys) rs142715085
NM_000392.5(ABCC2):c.3417G>A (p.Met1139Ile) rs752720879
NM_000392.5(ABCC2):c.3542G>A (p.Arg1181Gln) rs8187692
NM_000392.5(ABCC2):c.3815T>C (p.Ile1272Thr) rs886046620
NM_000392.5(ABCC2):c.3832G>T (p.Val1278Leu) rs2038979968
NM_000392.5(ABCC2):c.4025C>A (p.Ser1342Tyr)
NM_000392.5(ABCC2):c.411del (p.Leu138fs) rs1564670777
NM_000392.5(ABCC2):c.415T>C (p.Ser139Pro)
NM_000392.5(ABCC2):c.656G>A (p.Arg219His)
NM_000392.5(ABCC2):c.677T>A (p.Val226Asp) rs1382048442
NM_000392.5(ABCC2):c.929T>G (p.Leu310Trp)
NM_000443.4(ABCB4):c.-18G>T rs886062461
NM_000443.4(ABCB4):c.1005+3A>G rs1811389784
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) rs1813502867
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=) rs1811153797
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser) rs863225298
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) rs1811115234
NM_000443.4(ABCB4):c.135+26A>G
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) rs8187789
NM_000443.4(ABCB4):c.1678A>G (p.Thr560Ala)
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) rs886062460
NM_000443.4(ABCB4):c.2064+5G>A
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) rs1809490932
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) rs148865252
NM_000443.4(ABCB4):c.2478+7A>T rs778002144
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) rs764913373
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) rs1809055658
NM_000443.4(ABCB4):c.2782A>G (p.Arg928Gly) rs2116424316
NM_000443.4(ABCB4):c.2876G>C (p.Gly959Ala)
NM_000443.4(ABCB4):c.3193C>G (p.Leu1065Val)
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg) rs1808202820
NM_000443.4(ABCB4):c.344+4A>G rs1584768888
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) rs1807938184
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) rs1160711086
NM_000443.4(ABCB4):c.3737A>C (p.Gln1246Pro)
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) rs542995265
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) rs1554409388
NM_000463.3(UGT1A1):c.*133G>A rs561946796
NM_000463.3(UGT1A1):c.*301G>A rs1700551616
NM_000463.3(UGT1A1):c.*585G>T rs886055800
NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val) rs748989741
NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)
NM_000463.3(UGT1A1):c.1173G>A (p.Met391Ile)
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) rs1699600557
NM_000463.3(UGT1A1):c.1208G>T (p.Arg403Leu)
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr) rs202172337
NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=) rs587784537
NM_000463.3(UGT1A1):c.141C>A (p.Ile47=) rs34526305
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) rs190427553
NM_000463.3(UGT1A1):c.179T>C (p.Leu60Pro)
NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe) rs2125984867
NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro) rs751311281
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) rs1697515818
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg) rs1191873899
NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr) rs587784539
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu) rs587784540
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
NM_001080467.3(MYO5B):c.999G>T (p.Leu333Phe)
NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala) rs867268041
NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn) rs2078466084
NM_001206979.2(NR1H4):c.380G>A (p.Cys127Tyr)
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)
NM_001371395.1(USP53):c.372+3_372+6del rs773537048
NM_001371395.1(USP53):c.976G>A (p.Gly326Arg)
NM_001374385.1(ATP8B1):c.*102G>T rs886054008
NM_001374385.1(ATP8B1):c.*1243T>C rs571338678
NM_001374385.1(ATP8B1):c.*1333T>G rs1909226700
NM_001374385.1(ATP8B1):c.*1796G>A rs747148347
NM_001374385.1(ATP8B1):c.*1833G>A rs574070627
NM_001374385.1(ATP8B1):c.*212T>C rs886054007
NM_001374385.1(ATP8B1):c.*261G>C rs1909307752
NM_001374385.1(ATP8B1):c.*292C>A rs1599059993
NM_001374385.1(ATP8B1):c.*440C>T rs867751351
NM_001374385.1(ATP8B1):c.*467G>A rs1909290314
NM_001374385.1(ATP8B1):c.*646G>C rs886054006
NM_001374385.1(ATP8B1):c.*649C>A rs1288737685
NM_001374385.1(ATP8B1):c.*651T>C rs886054005
NM_001374385.1(ATP8B1):c.*694T>C rs886054004
NM_001374385.1(ATP8B1):c.*727A>C rs776278990
NM_001374385.1(ATP8B1):c.*735T>G rs561633356
NM_001374385.1(ATP8B1):c.*741A>G rs970265600
NM_001374385.1(ATP8B1):c.1193C>T (p.Thr398Ile) rs1484507624
NM_001374385.1(ATP8B1):c.1426T>A (p.Tyr476Asn)
NM_001374385.1(ATP8B1):c.1473+2T>C rs1568195257
NM_001374385.1(ATP8B1):c.1556G>A (p.Gly519Glu) rs886054011
NM_001374385.1(ATP8B1):c.2098-7_2098delinsTTTTTAGT rs1568187066
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
NM_001374385.1(ATP8B1):c.2208G>A (p.Lys736=) rs764984556
NM_001374385.1(ATP8B1):c.222C>A (p.His74Gln) rs145214384
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn) rs1599090593
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met) rs540027832
NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=) rs886054009
NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro) rs1909527634
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182
NM_001374385.1(ATP8B1):c.494C>G (p.Ala165Gly) rs886054014
NM_001374385.1(ATP8B1):c.501T>A (p.His167Gln) rs780703474
NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met) rs1449849281
NM_001374385.1(ATP8B1):c.782-5A>T rs886054013
NM_001388308.1(KIF12):c.704A>G (p.His235Arg)
NM_003742.4(ABCB11):c.*193G>C rs886055061
NM_003742.4(ABCB11):c.*26A>G rs762157709
NM_003742.4(ABCB11):c.*281T>G rs3732038
NM_003742.4(ABCB11):c.*406A>G rs1213193045
NM_003742.4(ABCB11):c.*509C>T rs886055059
NM_003742.4(ABCB11):c.-57C>T rs1695860361
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs1694080804
NM_003742.4(ABCB11):c.1197+13C>T rs781492309
NM_003742.4(ABCB11):c.1197+2T>C rs886055068
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly) rs1558898919
NM_003742.4(ABCB11):c.1434+5G>A
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=) rs1693471170
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu) rs1695254190
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val) rs1692231118
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=) rs2105912786
NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr) rs886055064
NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg)
NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys) rs755362375
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu) rs886055063
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His) rs886055062
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro) rs1553545883
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr) rs754048936
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser) rs1574398620
NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser) rs1691360150
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val) rs1163343377
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp) rs887349193
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) rs1691356249
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu) rs2105881962
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003742.4(ABCB11):c.3806C>T (p.Thr1269Ile)
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) rs1691168576
NM_003742.4(ABCB11):c.394C>T (p.Leu132=) rs1212884328
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr) rs776561679
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.583G>T (p.Val195Leu) rs762475940
NM_003742.4(ABCB11):c.585G>A (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp) rs72551306
NM_003742.4(ABCB11):c.76+4A>G
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn) rs1558909465
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser) rs199605381
NM_004817.4(TJP2):c.2667+3A>G
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del) rs746080083
NM_006446.5(SLCO1B1):c.*145T>C rs1219783036
NM_006446.5(SLCO1B1):c.*427G>T rs886049147
NM_006446.5(SLCO1B1):c.-62+10A>G rs1441556482
NM_006446.5(SLCO1B1):c.1213G>A (p.Val405Ile)
NM_006446.5(SLCO1B1):c.1280T>G (p.Phe427Cys)
NM_006446.5(SLCO1B1):c.1415C>T (p.Pro472Leu) rs1941210611
NM_006446.5(SLCO1B1):c.1459G>T (p.Ala487Ser) rs886049145
NM_006446.5(SLCO1B1):c.1462G>A (p.Gly488Ser)
NM_006446.5(SLCO1B1):c.1474T>A (p.Ser492Thr)
NM_006446.5(SLCO1B1):c.1498-8C>T rs78474337
NM_006446.5(SLCO1B1):c.152C>T (p.Ser51Phe)
NM_006446.5(SLCO1B1):c.1729A>C (p.Met577Leu) rs371102023
NM_006446.5(SLCO1B1):c.1805G>T (p.Trp602Leu)
NM_006446.5(SLCO1B1):c.1848T>G (p.Tyr616Ter)
NM_006446.5(SLCO1B1):c.1905_1909del (p.Ser636fs)
NM_006446.5(SLCO1B1):c.1925_1929del (p.Ile642fs) rs759508960
NM_006446.5(SLCO1B1):c.1998T>A (p.Asp666Glu)
NM_006446.5(SLCO1B1):c.225T>G (p.Ile75Met) rs1251292787
NM_006446.5(SLCO1B1):c.263G>A (p.Gly88Glu) rs2121100998
NM_006446.5(SLCO1B1):c.284del (p.Lys95fs)
NM_006446.5(SLCO1B1):c.311T>A (p.Met104Lys) rs1258500103
NM_006446.5(SLCO1B1):c.359+23dup rs4149095
NM_006446.5(SLCO1B1):c.360-15G>A rs886049144
NM_006446.5(SLCO1B1):c.373A>G (p.Lys125Glu)
NM_006446.5(SLCO1B1):c.601A>G (p.Lys201Glu)
NM_006446.5(SLCO1B1):c.629-1G>A
NM_006446.5(SLCO1B1):c.674C>T (p.Thr225Ile)
NM_006446.5(SLCO1B1):c.786C>T (p.Phe262=) rs780914697
NM_006446.5(SLCO1B1):c.797G>T (p.Gly266Val) rs779807623
NM_006446.5(SLCO1B1):c.808A>C (p.Ile270Leu)
NM_006446.5(SLCO1B1):c.84+1G>A rs571639279
NM_006446.5(SLCO1B1):c.858A>G (p.Pro286=)
NM_006446.5(SLCO1B1):c.904A>T (p.Asn302Tyr)
NM_018668.5(VPS33B):c.*155A>G rs886051555
NM_018668.5(VPS33B):c.*262T>G rs886051554
NM_018668.5(VPS33B):c.-120G>A rs2041131003
NM_018668.5(VPS33B):c.-335C>T rs886051558
NM_018668.5(VPS33B):c.1591C>T (p.Arg531Trp) rs758814929
NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe) rs2040379043
NM_018668.5(VPS33B):c.508C>A (p.Gln170Lys) rs139582205
NM_018668.5(VPS33B):c.572C>G (p.Pro191Arg) rs770015890
NM_018668.5(VPS33B):c.888T>C (p.Asn296=) rs762443300
NM_019844.4(SLCO1B3):c.*219G>A rs886049139
NM_019844.4(SLCO1B3):c.*339G>C rs191491660
NM_019844.4(SLCO1B3):c.*399A>G rs886049141
NM_019844.4(SLCO1B3):c.*437A>G rs1866507319
NM_019844.4(SLCO1B3):c.*560T>C rs886049142
NM_019844.4(SLCO1B3):c.-147A>T rs1374502602
NM_019844.4(SLCO1B3):c.1129T>C (p.Leu377=) rs1474803384
NM_019844.4(SLCO1B3):c.1147A>G (p.Ile383Val)
NM_019844.4(SLCO1B3):c.1200C>A (p.Phe400Leu)
NM_019844.4(SLCO1B3):c.1205T>C (p.Leu402Ser)
NM_019844.4(SLCO1B3):c.1241C>A (p.Thr414Asn)
NM_019844.4(SLCO1B3):c.1274A>G (p.Tyr425Cys)
NM_019844.4(SLCO1B3):c.1291G>A (p.Glu431Lys)
NM_019844.4(SLCO1B3):c.1363C>G (p.Pro455Ala)
NM_019844.4(SLCO1B3):c.1364C>G (p.Pro455Arg)
NM_019844.4(SLCO1B3):c.1432G>C (p.Gly478Arg) rs886049137
NM_019844.4(SLCO1B3):c.147A>C (p.Lys49Asn) rs1865106191
NM_019844.4(SLCO1B3):c.1659C>T (p.Thr553=) rs1865736744
NM_019844.4(SLCO1B3):c.1685T>C (p.Ile562Thr)
NM_019844.4(SLCO1B3):c.170_174del (p.Arg57fs)
NM_019844.4(SLCO1B3):c.1732G>C (p.Val578Leu)
NM_019844.4(SLCO1B3):c.1748-12C>T rs886049138
NM_019844.4(SLCO1B3):c.1843A>G (p.Ile615Val)
NM_019844.4(SLCO1B3):c.1992A>C (p.Lys664Asn) rs758003128
NM_019844.4(SLCO1B3):c.2020T>A (p.Leu674Ile)
NM_019844.4(SLCO1B3):c.203dup (p.Leu68fs) rs748195197
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) rs558592800
NM_019844.4(SLCO1B3):c.2105A>G (p.Asn702Ser)
NM_019844.4(SLCO1B3):c.263G>T (p.Gly88Val)
NM_019844.4(SLCO1B3):c.291del (p.Ile97fs) rs1565591652
NM_019844.4(SLCO1B3):c.360-3_362del rs772663115
NM_019844.4(SLCO1B3):c.432_435del (p.Asn145fs) rs764867994
NM_019844.4(SLCO1B3):c.446_448del (p.Ser149del)
NM_019844.4(SLCO1B3):c.518A>G (p.Tyr173Cys) rs886049134
NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys) rs746941097
NM_019844.4(SLCO1B3):c.587T>C (p.Ile196Thr)
NM_019844.4(SLCO1B3):c.628+4A>T rs886049135
NM_019844.4(SLCO1B3):c.67C>T (p.Arg23Cys)
NM_019844.4(SLCO1B3):c.731C>G (p.Thr244Ser) rs1361523872
NM_019844.4(SLCO1B3):c.758G>A (p.Arg253His) rs745538500
NM_019844.4(SLCO1B3):c.803T>G (p.Phe268Cys) rs1449152778
NM_019844.4(SLCO1B3):c.83A>C (p.Lys28Thr)
NM_019844.4(SLCO1B3):c.956C>G (p.Thr319Ser)
NM_019844.4(SLCO1B3):c.977del (p.Phe326fs) rs769005039
NM_032830.3(UTP4):c.-2-3T>C rs1962709947
NM_032830.3(UTP4):c.1308C>T (p.Phe436=) rs140221825
NM_032830.3(UTP4):c.418A>G (p.Asn140Asp) rs1962851495
NM_032830.3(UTP4):c.632G>A (p.Ser211Asn) rs1963017242
NM_032830.3(UTP4):c.754G>T (p.Val252Leu) rs375128162
NM_032830.3(UTP4):c.872G>A (p.Arg291His) rs760350216
NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)
UGT1A1*28 rs3064744

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