| ABCG2 |
rs2231142 reference (G), rs2231142 variant (T) |
| CACNA1S |
Reference,c.520C>T,c.3257G>A |
| CFTR |
ivacaftor non-responsive CFTR sequence, 711+3A->G, 2789+5G->A, 3272-26A->G, 3849+10kbC->T, A455E, A1067T, D110E, D110H, D579G, D1152H, D1270N, E56K, E193K, E831X, F1052V, F1074L, G178R, G551D, G551S, G1069R, G1244E, G1349D, K1060T, L206W, P67L, R74W, R117C, R117H, R347H, R352Q, R1070Q, R1070W, S549N, S549R(A>C), S549R(T>G), S945L, S977F, S1251N, S1255P |
| CYP2B6 |
*1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *17, *18, *19, *20, *21, *22, *23, *24, *25, *26, *27, *28, *31, *32, *33, *34, *35, *36, *37, *38, *39, *40, *41, *42, *43, *44, *45, *46, *47, *48 |
| CYP2C19 |
*38, *1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *16, *17, *18, *19, *22, *23, *24, *25, *26, *28, *29, *30, *31, *32, *33, *34, *35, *39 |
| CYP2C9 |
*1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *16, *17, *18, *19, *20, *21, *22, *23, *24, *25, *26, *27, *28, *29, *30, *31, *32, *33, *34, *35, *36, *37, *38, *39, *40, *41, *42, *43, *44, *45, *46, *47, *48, *49, *50, *51, *52, *53, *54, *55, *56, *57, *58, *59, *60, *61, *62, *63, *64, *65, *66, *67, *68, *69, *70, *71, *72, *73, *74, *75, *76, *77, *78, *79, *80, *81, *82, *83, *84, *85 |
| CYP2D6 |
*1, *2, *3, *4, *6, *7, *8, *9, *10, *11, *12, *14, *15, *17, *18, *19, *20, *21, *22, *23, *24, *25, *26, *27, *28, *29, *30, *31, *32, *33, *34, *35, *36, *37, *38, *39, *40, *41, *42, *43, *44, *45, *46, *47, *48, *49, *50, *51, *52, *53, *54, *55, *56, *58, *59, *60, *62, *64, *65, *69, *70, *71, *72, *73, *74, *75, *81, *82, *83, *84, *85, *86, *87, *88, *89, *90, *91, *92, *93, *94, *95, *96, *97, *98, *99, *100, *101, *102, *103, *104, *105, *106, *107, *108, *109, *110, *111, *112, *113, *114, *115, *116, *117, *118, *119, *120, *121, *122, *123, *124, *125, *126, *127, *128, *129, *130, *131, *132, *133, *134, *135, *136, *137, *138, *139, *140, *141, *142, *143, *144, *145, *146, *147, *148, *149, *150, *151, *152, *153, *154, *155, *156, *157, *158, *159, *160, *161, *162, *163, *164, *165, *166, *167, *168, *169, *170, *171, *172 |
| CYP3A4 |
*1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *16, *17, *18, *19, *20, *21, *22, *23, *24, *26, *28, *29, *30, *31, *32, *33, *34, *35, *37, *38, *39, *40, *41, *42, *43, *44, *45, *46, *47, *48 |
| CYP3A5 |
*1, *3, *6, *7, *8, *9 |
| CYP4F2 |
*1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *17 |
| DPYD |
Reference, c.46C>G, c.61C>T, c.62G>A, c.85T>C, c.295_298delTCAT, c.313G>A, c.343A>G, c.451A>G, c.496A>G, c.498G>A, c.525G>A, c.557A>G, c.601A>C, c.632A>G, c.703C>T, c.775A>G, c.868A>G, c.929T>C, c.934C>T, c.967G>A, c.1003G>T, c.1024G>A, c.1057C>T, c.1108A>G, c.1129-5923C>G, c.1129-5923C>G|c.1236G>A, c.1156G>T, c.1180C>T, c.1181G>T, c.1218G>A, c.1260T>A, c.1278G>T, c.1294G>A, c.1314T>G, c.1349C>T, c.1358C>G, c.1371C>T, c.1403C>A, c.1475C>T, c.1484A>G, c.1519G>A, c.1543G>A, c.1577C>G, c.1601G>A, c.1615G>A, c.1627A>G, c.1679T>G, c.1682G>T, c.1774C>T, c.1775G>A, c.1777G>A, c.1796T>C, c.1896T>C, c.1898delC, c.1905+1G>A, c.1905C>G, c.1906A>C, c.1990G>T, c.2021G>A, c.2161G>A, c.2186C>T, c.2194G>A, c.2195T>G, c.2279C>T, c.2303C>A, c.2336C>A, c.2482G>A, c.2582A>G, c.2623A>C, c.2639G>T, c.2656C>T, c.2657G>A, c.2846A>T, c.2872A>G, c.2915A>G, c.2921A>T, c.2933A>G, c.2977C>T, c.2978T>G, c.2983G>T, c.3049G>A, c.3061G>C, c.3067C>A |
| F5 |
rs6025 C, rs6025 T (Factor V Leiden) |
| G6PD |
B (reference), 202G>A_376A>G_1264C>G, A, A- 202A_376G, A- 680T_376G, A- 968C_376G, Aachen, Abeno, Acrokorinthos, Alhambra, Amazonia, Amiens, Amsterdam, Anadia, Ananindeua, Andalus, Arakawa, Asahi, Asahikawa, Aures, Aveiro, Bajo Maumere, Bangkok, Bangkok Noi, Bao Loc, Bari, Belem, Beverly Hills|Genova|Iwate|Niigata|Yamaguchi, Brighton, Buenos Aires, Cairo, Calvo Mackenna, Campinas, Canton|Taiwan-Hakka|Gifu-like|Agrigento-like, Cassano, Chatham, Chikugo, Chinese-1, Chinese-5, Cincinnati, Cleveland, Clinic, Coimbra Shunde, Cosenza, Costanzo, Covao do Lobo, Crispim, Dagua, Durham, Farroupilha, Figuera da Foz, Flores, Fukaya, Fushan, Gaohe, Georgia, Gidra, Gond, Guadalajara, Guangzhou, Haikou, Hammersmith, Harilaou, Harima, Hartford, Hechi, Hermoupolis, Honiara, Ierapetra, Ilesha, Insuli, Iowa|Walter Reed|Springfield, Iwatsuki, Japan|Shinagawa, Kaiping|Anant|Dhon|Sapporo-like|Wosera, Kalyan-Kerala|Jamnaga|Rohini, Kambos, Kamiube|Keelung, Kamogawa, Kawasaki, Kozukata, Krakow, La Jolla, Lages, Lagosanto, Laibin, Lille, Liuzhou, Loma Linda, Ludhiana, Lynwood, Madrid, Mahidol, Malaga, Manhattan, Mediterranean|Dallas|Panama|Sassari|Cagliari|Birmingham, Metaponto, Mexico City, Miaoli, Minnesota|Marion|Gastonia|LeJeune, Mira d'Aire, Mizushima, Montalbano, Montpellier, Mt Sinai, Munich, Murcia Oristano, Musashino, Namouru, Nankang, Nanning, Naone, Nara, Nashville|Anaheim|Portici, Neapolis, Nice, Nilgiri, No name, North Dallas, Olomouc, Omiya, Orissa, Osaka, Palestrina, Papua, Partenope, Pawnee, Pedoplis-Ckaro, Piotrkow, Plymouth, Praha, Puerto Limon, Quing Yan, Radlowo, Rehevot, Rignano, Riley, Riverside, Roubaix, S. Antioco, Salerno Pyrgos, Santa Maria, Santiago, Santiago de Cuba|Morioka, Sao Borja, Seattle|Lodi|Modena|Ferrara II|Athens-like, Seoul, Serres, Shenzen, Shinshu, Sibari, Sierra Leone, Sinnai, Songklanagarind, Split, Stonybrook, Sugao, Sumare, Sunderland, Surabaya, Suwalki, Swansea, Taipei|Chinese-3, Telti|Kobe, Tenri, Tokyo|Fukushima, Toledo, Tomah, Tondela, Torun, Tsukui, Ube Konan, Union|Maewo|Chinese-2|Kalo, Urayasu, Utrecht, Valladolid, Vancouver, Vanua Lava, Viangchan|Jammu, Volendam, Wayne, West Virginia, Wexham, Wisconsin, Yunan |
| IFNL3 |
rs12979860 reference (C), rs12979860 variant (T) |
| NUDT15 |
*1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *16, *17, *18, *19, *20 |
| RYR1 |
Reference, c.38T>G, c.51_53del, c.97A>G, c.103T>C, c.119G>C, c.130C>T, c.131G>A, c.152C>A, c.178G>A, c.178G>T, c.190T>C, c.212C>A, c.251C>T, c.418G>A, c.455C>A, c.463C>A, c.467G>A, c.479A>G, c.487C>T, c.488G>A, c.488G>T, c.493G>A, c.496G>A, c.497A>G, c.526G>A, c.528G>T, c.529C>T, c.533A>C, c.533A>G, c.625G>A, c.641C>T, c.652G>A, c.677T>A, c.680A>T, c.742G>A, c.742G>C, c.946C>T, c.947G>T, c.982C>T, c.992_994dup, c.1021G>A, c.1021G>C, c.1024G>A, c.1100G>A, c.1100G>T, c.1144C>A, c.1201C>A, c.1201C>G, c.1201C>T, c.1202G>A, c.1202G>T, c.1209C>G, c.1411C>T, c.1422G>T, c.1453A>G, c.1459C>G, c.1460T>C, c.1475G>A, c.1553T>C, c.1565A>C, c.1565A>G, c.1589G>A, c.1597C>A, c.1597C>T, c.1598G>A, c.1615T>C, c.1615T>G, c.1630G>T, c.1654C>T, c.1834G>C, c.1840C>T, c.1841G>T, c.2050G>C, c.2122G>A, c.2447C>T, c.2537C>T, c.2654G>A, c.2797G>A, c.2924G>A, c.2996G>A, c.3095G>A, c.3127C>T, c.3166G>A, c.3166G>C, c.3172G>A, c.3224G>A, c.3418C>T, c.3527C>T, c.3656A>C, c.3667G>A, c.4024A>G, c.4178A>G, c.4400A>G, c.4711A>G, c.4747C>T, c.4763C>T, c.4775C>T, c.5024T>C, c.5033A>G, c.5036G>A, c.5132A>G, c.5183C>T, c.5186T>G, c.5317C>T, c.5341T>C, c.5360C>T, c.5440A>G, c.5441T>A, c.5890C>T, c.6037A>C, c.6178G>T, c.6302T>A, c.6304G>C, c.6349G>C, c.6377G>A, c.6387C>G, c.6388G>A, c.6478G>A, c.6487C>T, c.6488G>A, c.6488G>C, c.6488G>T, c.6502G>A, c.6544A>T, c.6548G>A, c.6599C>T, c.6612C>G, c.6617C>G, c.6617C>T, c.6628G>T, c.6635T>A, c.6640G>A, c.6670C>T, c.6671G>A, c.6710G>A, c.6742C>T, c.6743G>A, c.6757C>T, c.6838G>A, c.6847A>C, c.6961A>G, c.7007G>A, c.7018T>C, c.7025A>G, c.7032G>C, c.7035C>A, c.7036G>A, c.7042_7044delGAG, c.7043A>G, c.7048G>A, c.7060G>A, c.7063C>T, c.7073T>A, c.7075C>T, c.7076G>A, c.7084G>A, c.7085A>G, c.7089C>G, c.7090T>G, c.7097C>G, c.7099G>A, c.7112A>G, c.7123G>A, c.7124G>C, c.7199A>G, c.7210G>A, c.7282G>A, c.7291G>A, c.7291G>T, c.7292A>T, c.7300G>A, c.7304G>A, c.7304G>T, c.7307G>A, c.7310C>T, c.7317G>C, c.7354C>T, c.7355G>A, c.7355G>C, c.7358T>C, c.7360C>T, c.7361G>A, c.7372C>T, c.7373G>A, c.7373G>T, c.7385C>T, c.7487C>T, c.7522C>G, c.7522C>T, c.7523G>A, c.7528T>C, c.7760A>G, c.7771C>G, c.7771C>T, c.7777C>G, c.7778G>A, c.7787C>T, c.7816T>A, c.7879G>A, c.7879G>C, c.8005G>A, c.8026C>T, c.8054C>T, c.8188G>C, c.8189A>G, c.8198G>A, c.8290G>A, c.8327C>T, c.8360C>G, c.8518C>T, c.8527T>C, c.8600T>A, c.8638G>A, c.8654C>G, c.8729C>T, c.8926C>T, c.9152G>A, c.9268G>A, c.9310G>A, c.9356G>A, c.9499C>T, c.9635A>G, c.9649T>C, c.9652G>A, c.9676G>C, c.9758T>C, c.9797T>C, c.9848G>A, c.9850T>A, c.9868G>A, c.10042C>T, c.10043G>A, c.10097G>A, c.10100A>G, c.10229C>A, c.10237A>T, c.10252A>G, c.10556C>T, c.10616G>A, c.10747G>C, c.10750G>C, c.10891G>T, c.11086G>C, c.11120G>T, c.11126C>T, c.11132C>T, c.11266C>G, c.11314C>T, c.11315G>A, c.11416G>A, c.11518G>A, c.11708G>A, c.11723A>T, c.11748T>G, c.11798A>G, c.11813G>A, c.11947C>T, c.11953T>C, c.11958C>G, c.11969G>T, c.12028G>A, c.12064A>G, c.12115A>T, c.12121C>T, c.12149C>A, c.12242C>T, c.12310G>C, c.12355A>T, c.12383C>T, c.12398A>G, c.12406C>A, c.12413T>C, c.12532G>A, c.12533G>T, c.12553G>A, c.12689T>G, c.12700G>C, c.12700G>T, c.12848A>T, c.12881C>T, c.12884C>T, c.13505A>G, c.13513G>C, c.13672C>T, c.13673G>A, c.13702C>G, c.13760C>T, c.13913G>A, c.13918A>G, c.13934G>A, c.13990T>C, c.13994_13995delTCinsCT, c.14002C>T, c.14051T>C, c.14126C>T, c.14168G>A, c.14186A>C, c.14197T>G, c.14201G>A, c.14209C>T, c.14210G>A, c.14270G>A, c.14364+1G>T, c.14387A>G, c.14422_14423delinsAA, c.14424C>A, c.14449A>T, c.14458G>A, c.14458G>T, c.14471T>C, c.14477C>T, c.14497C>T, c.14509C>G, c.14512C>G, c.14524G>A, c.14539G>C, c.14545G>A, c.14558C>T, c.14567C>G, c.14581C>T, c.14582G>A, c.14627A>G, c.14639T>C, c.14678G>A, c.14680G>A, c.14693T>C, c.14782A>G, c.14803G>A, c.14813T>C, c.14814C>G, c.14817C>A, c.14818G>A, c.14825G>T, c.14879T>A, c.14918C>T, c.14968A>G, c.15059G>C, c.15060G>C |
| SLCO1B1 |
*1, *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *16, *19, *20, *23, *24, *25, *26, *27, *28, *29, *30, *31, *32, *33, *34, *36, *37, *38, *39, *40, *41, *42, *43, *44, *45, *46, *47 |
| TPMT |
*1, *2, *3A, *3B, *3C, *4, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14, *15, *16, *17, *18, *19, *20, *21, *22, *23, *24, *25, *26, *27, *28, *29, *30, *31, *32, *33, *34, *35, *36, *37, *38, *39, *40, *41, *42, *43, *44 |
| UGT1A1 |
*1, *6, *27, *28, *36, *37, *80, *80+*28, *80+*37 |
| VKORC1 |
rs9923231 reference (C), rs9923231 variant (T) |
| HLA-A |
*31:01 |
| HLA-B |
*15:02, *57:01, *58:01 |
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