PMID: 24944790

Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical reports
JY Kim, HS Cheong, TJ Park, HJ Shin, DW Seo, HS Na, MW Chung, HD Shin
2014-07

392 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-234676880-C-G UGT1A1 c.1099C>G p.Arg367Gly Missense 4/5 -
7-87161520-T-C ABCB1 c.2482-707A>G - IntronicSNV - 21/28
22-37096927-T-C CACNG2 c.211+1484A>G - IntronicSNV - 1/3
13-103697728-G-A SLC10A2 c.*755C>T - 3-UTRSNV 6/6 -
10-96522463-A-T CYP2C19 c.1A>T p.Met1Leu Missense 1/9 -
16-16086833-C-T ABCC1 c.49-14840C>T - IntronicSNV - 1/30
1-163040495-G-A RGS4 c.44+1177G>A - IntronicSNV - 1/4
1-163040495-G-T RGS4 c.44+1177G>T - IntronicSNV - 1/4
7-30726777-A-T CRHR2 c.184+2030T>A - IntronicSNV - 2/12
22-37097564-C-G CACNG2 c.211+847G>C - IntronicSNV - 1/3
22-19955692-C-A COMT c.616-367C>A - IntronicSNV - 5/5
22-37097564-C-T CACNG2 c.211+847G>A - IntronicSNV - 1/3
12-21325716-T-C SLCO1B1 c.217T>C p.Phe73Leu Missense 3/15 -
X-113965735-G-C HTR2C c.68G>C p.Cys23Ser Missense 4/6 -
3-186451236-T-C KNG1 c.930+773T>C - IntronicSNV - 7/9
3-186451236-T-A KNG1 c.930+773T>A - IntronicSNV - 7/9
10-73771706-G-A CHST3 c.*3477G>A - 3-UTRSNV 3/3 -
10-96797270-T-C CYP2C8 c.1292-204A>G - IntronicSNV - 8/8
5-148206885-C-T ADRB2 c.491C>T p.Thr164Ile Missense 1/1 -
11-113306765-C-T DRD2 c.1-11392G>A - IntronicSNV - 1/7
6-35542476-C-A FKBP5 c.*1136G>T - 3-UTRSNV 12/12 -
19-41349732-C-A CYP2A6 c.1454G>T p.Arg485Leu Missense 9/9 -
6-30457732-T-G HLA-E c.294T>G p.Asn98Lys Missense 2/8 -
6-30457732-T-A HLA-E c.294T>A p.Asn98Lys Missense 2/8 -
2-170010985-T-A LRP2 c.12280A>T p.Lys4094* Nonsense 66/79 -
3-38645420-T-C SCN5A c.1673A>G p.His558Arg Missense 12/28 -
2-234526871-C-G UGT1A8 c.518C>G p.Ala173Gly Missense 1/5 -
7-55259515-T-A EGFR c.2573T>A p.Leu858Gln Missense 21/28 -
7-87220886-A-G ABCB1 c.117+4196T>C - IntronicSNV - 4/28
21-37510146-A-G CBR3 c.313A>G p.Ile105Val Missense 2/3 -
1-20915701-A-C CDA c.79A>C p.Lys27Gln Missense 1/4 -
9-136131322-G-A ABO c.793C>T - synonymous_variant 8/8 -
7-30726777-A-C CRHR2 c.184+2030T>G - IntronicSNV - 2/12
15-75044400-G-C CYP1A2 c.1043-65G>C - IntronicSNV - 4/6
1-226026406-A-G EPHX1 c.416A>G p.His139Arg Missense 4/9 -
3-38674719-C-T SCN5A c.80G>A p.Arg27His Missense 2/28 -
6-18130918-T-G TPMT c.719A>C p.Tyr240Ser Missense 9/9 -
3-152553628-C-T P2RY1 c.57C>T p.Ala19Ala Synonymous 1/1 -
7-87180198-C-T ABCB1 c.1000-44G>A - IntronicSNV - 10/28
7-87180198-C-A ABCB1 c.1000-44G>T - IntronicSNV - 10/28
10-96609775-A-C CYP2C19 c.1251A>C p.Gly417Gly Synonymous 8/9 -
6-30457732-T-C HLA-E c.294T>C p.Asn98Asn Synonymous 2/8 -
7-99361626-A-G CYP3A4 c.875T>C p.Leu292Pro Missense 10/13 -
10-96522561-T-C CYP2C19 c.99T>C p.Pro33Pro Synonymous 1/9 -
7-87161049-T-C ABCB1 c.2482-236A>G - IntronicSNV - 21/28
10-92594343-C-T HTR7 c.539+22547G>A - IntronicSNV - 1/2
8-18079653-C-T NAT1 c.97C>T p.Arg33* Nonsense 3/3 -
16-16173232-G-T ABCC1 c.2012G>T p.Gly671Val Missense 16/31 -
16-31102589-G-A VKORC1 c.358C>T p.Leu120Leu Synonymous 3/3 -
1-97564154-C-T DPYD c.2657G>A p.Arg886His Missense 21/23 -
22-42525182-A-T CYP2D6 c.358T>A p.Phe120Ile Missense 3/9 -
2-201526330-A-G AOX1 c.3404A>G p.Asn1135Ser Missense 30/35 -
1-97543752-G-A DPYD c.*780C>T - 3-UTRSNV 23/23 -
19-39734923-A-G IFNL3 c.259-126T>C - IntronicSNV - 2/4
3-37034946-G-A MLH1 c.1-93G>A - 5-UTRSNV 1/19 -
16-16205325-G-A ABCC1 c.2965G>A p.Ala989Thr Missense 22/31 -
2-234676979-A-C UGT1A1 c.1198A>C p.Asn400His Missense 4/5 -
6-160543148-C-T SLC22A1 c.181C>T p.Arg61Cys Missense 1/11 -
12-48272806-C-T VDR c.91G>A p.Ala31Thr Missense 3/10 -
2-234676979-A-G UGT1A1 c.1198A>G p.Asn400Asp Missense 4/5 -
12-21327529-T-C SLCO1B1 c.245T>C p.Val82Ala Missense 4/15 -
1-97915614-C-G DPYD c.1905+1G>C - IntronicSNV - 14/22
1-97915614-C-T DPYD c.1905+1G>A - IntronicSNV - 14/22
8-63938764-G-A GGH c.452C>T p.Thr151Ile Missense 5/9 -
6-31607050-C-T BAG6 c.3286-47G>A - IntronicSNV - 24/24
7-87179839-C-A ABCB1 c.1169G>T p.Gly390Val Missense 12/29 -
22-19955692-C-T COMT c.616-367C>T - IntronicSNV - 5/5
13-47433355-C-T HTR2A c.614-23581G>A - IntronicSNV - 3/3
8-18257877-G-A NAT2 c.364G>A p.Asp122Asn Missense 2/2 -
10-135348544-T-A CYP2E1 c.967+1143T>A - IntronicSNV - 6/8
8-18257795-C-T NAT2 c.282C>T p.Tyr94Tyr Synonymous 2/2 -
X-153760654-G-A G6PD c.1401C>T p.Tyr467Tyr Synonymous 11/13 -
19-41354171-G-A CYP2A6 c.607C>T p.Arg203Cys Missense 4/9 -
10-96522463-A-G CYP2C19 c.1A>G p.Met1Val Missense 1/9 -
8-18079213-C-A NAT1 c.1-344C>A - IntronicSNV - 2/2
2-108994808-C-G SULT1C4 c.15C>G p.Asp5Glu Missense 1/7 -
7-150647304-G-A KCNH2 c.2350C>T p.Arg784Trp Missense 9/15 -
7-55229255-G-C EGFR c.1562G>C p.Arg521Thr Missense 13/28 -
19-41349732-C-G CYP2A6 c.1454G>C p.Arg485Pro Missense 9/9 -
4-89033527-T-C ABCG2 c.1194+928A>G - IntronicSNV - 9/15
1-163039777-T-C RGS4 c.44+459T>C - IntronicSNV - 1/4
19-41518370-C-T CYP2B6 c.1132C>T p.Arg378* Nonsense 7/9 -
12-21045694-A-G SLCO1B3 c.1683-5676A>G - IntronicSNV - 13/15
6-18139802-A-T TPMT c.419+94T>A - IntronicSNV - 5/8
10-96612495-C-T CYP2C19 c.1297C>T p.Arg433Trp Missense 9/9 -
X-153764217-C-T G6PD c.292G>A p.Val98Met Missense 4/13 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
X-153763492-T-C G6PD c.466A>G p.Asn156Asp Missense 5/13 -
X-153763492-T-A G6PD c.466A>T p.Asn156Tyr Missense 5/13 -
15-51502844-A-C CYP19A1 c.*161T>G - 3-UTRSNV 10/10 -
3-152554357-A-G P2RY1 c.786A>G p.Val262Val Synonymous 1/1 -
4-69536084-A-C UGT2B15 c.253T>G p.Tyr85Asp Missense 1/6 -
1-97544627-C-A DPYD c.2983G>T p.Val995Phe Missense 23/23 -
19-41514965-G-C CYP2B6 c.646-159G>C - IntronicSNV - 4/8
6-160664685-G-A SLC22A2 c.1198C>T p.Arg400Cys Missense 7/11 -
3-119813282-A-G GSK3B c.1-1001T>C - IntergenicSNV 1/11 -
2-234667582-A-T UGT1A4 c.868-8098A>T - IntronicSNV - 1/4
22-42525132-G-C CYP2D6 c.408C>G p.Val136Val Synonymous 3/9 -
1-226019633-T-C EPHX1 c.337T>C p.Tyr113His Missense 3/9 -
7-30718103-G-A CRHR2 c.310+3428C>T - IntronicSNV - 3/12
7-99258139-C-T CYP3A5 c.1009G>A p.Ala337Thr Missense 10/13 -
2-234667582-A-C UGT1A4 c.868-8098A>C - IntronicSNV - 1/4
2-234667582-A-G UGT1A4 c.868-8098A>G - IntronicSNV - 1/4
17-37879588-A-T ERBB2 c.1963A>T p.Ile655Phe Missense 17/27 -
10-96535173-T-C CYP2C19 c.358T>C p.Trp120Arg Missense 3/9 -
21-46957794-T-G SLC19A1 c.80A>C p.His27Pro Missense 2/6 -
X-153761160-C-G G6PD c.1138G>C p.Asp380His Missense 9/13 -
X-153761160-C-T G6PD c.1138G>A p.Asp380Asn Missense 9/13 -
1-20931474-G-A CDA c.208G>A p.Ala70Thr Missense 2/4 -
1-97700417-G-C DPYD c.2433C>G p.Ser811Ser Synonymous 19/23 -
1-97700417-G-T DPYD c.2433C>A p.Ser811Ser Synonymous 19/23 -
6-101906652-A-G GRIK2 c.115+59384A>G - IntronicSNV - 1/16
6-101906652-A-C GRIK2 c.115+59384A>C - IntronicSNV - 1/16
15-75047426-C-T CYP1A2 c.1548C>T p.Asn516Asn Synonymous 7/7 -
1-20915716-C-A CDA c.94C>A p.Pro32Thr Missense 1/4 -
8-18079517-A-T NAT1 c.1-40A>T - IntronicSNV - 2/2
10-73769507-C-T CHST3 c.*1278C>T - 3-UTRSNV 3/3 -
8-18258370-G-A NAT2 c.857G>A p.Gly286Glu Missense 2/2 -
10-101542578-C-T ABCC2 c.1-24C>T - 5-UTRSNV 1/32 -
7-150674935-C-T KCNH2 c.67G>A p.Glu23Lys Missense 1/15 -
3-38648278-CA-AC SCN5A c.1021_1022delTGinsAC p.Cys341Thr Missense 9/28 -
4-89078924-T-A ABCG2 c.-20+614A>T - intron_variant - 1/15
10-96811045-G-A CYP2C8 c.820-5337C>T - IntronicSNV - 5/8
2-234590527-T-A UGT1A10 c.855+44504T>A - IntronicSNV - 1/4
2-234590527-T-G UGT1A10 c.855+44504T>G - IntronicSNV - 1/4
22-42525035-C-A CYP2D6 c.505G>T p.Gly169* Nonsense 3/9 -
15-75047245-G-A CYP1A2 c.1367G>A p.Arg456His Missense 7/7 -
13-47433355-C-G HTR2A c.614-23581G>C - IntronicSNV - 3/3
10-96580202-C-G CYP2C19 c.820-51C>G - IntronicSNV - 5/8
15-75044552-G-A CYP1A2 c.1130G>A p.Arg377Gln Missense 5/7 -
4-69682795-G-A UGT2B10 c.718+340G>A - IntronicSNV - 1/5
10-101604207-C-G ABCC2 c.3972C>G p.Ile1324Met Missense 28/32 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
17-45360730-T-C ITGB3 c.176T>C p.Leu59Pro Missense 3/15 -
16-16228242-G-C ABCC1 c.4002G>C p.Ser1334Ser Synonymous 28/31 -
16-16228242-G-A ABCC1 c.4002G>A p.Ser1334Ser Synonymous 28/31 -
10-101604207-C-T ABCC2 c.3972C>T p.Ile1324Ile Synonymous 28/32 -
16-16141823-T-C ABCC1 c.1219-176T>C - IntronicSNV - 9/30
1-11906068-A-G NPPA c.454T>C - Missense 3/3 -
1-98187098-T-C DPYD c.451A>G p.Asn151Asp Missense 5/23 -
X-114138144-C-G HTR2C c.551-3008C>G - IntronicSNV - 5/5
14-70245193-G-A SLC10A1 c.800C>T p.Ser267Phe Missense 4/5 -
22-42525182-A-G CYP2D6 c.358T>C p.Phe120Leu Missense 3/9 -
7-150644394-C-T KCNH2 c.3152+22G>A - IntronicSNV - 13/14
20-3193842-C-A ITPA c.94C>A p.Pro32Thr Missense 2/8 -
20-3193842-C-G ITPA c.94C>G p.Pro32Ala Missense 2/8 -
10-96701715-T-C CYP2C9 c.269T>C p.Leu90Pro Missense 2/9 -
13-95713715-G-A ABCC4 c.3366+1243C>T - IntronicSNV - 26/30
13-95713715-G-T ABCC4 c.3366+1243C>A - IntronicSNV - 26/30
22-42525035-C-G CYP2D6 c.505G>C p.Gly169Arg Missense 3/9 -
8-18080440-A-T NAT1 c.*11A>T - 3-UTRSNV 3/3 -
7-150644394-C-G KCNH2 c.3152+22G>C - IntronicSNV - 13/14
8-18257694-AGA-TGT NAT2 c.181_183delAGAinsTGT p.Arg61Cys Missense 2/2 -
6-18131012-C-T TPMT c.626-1G>A - IntronicSNV - 8/8
7-87133651-C-T ABCB1 c.3751G>A p.Val1251Ile Missense 29/29 -
6-160670282-A-C SLC22A2 c.808T>G p.Ser270Ala Missense 4/11 -
21-37507767-G-A CBR3 c.277G>A p.Val93Ile Missense 1/3 -
19-41522715-C-T CYP2B6 c.1459C>T p.Arg487Cys Missense 9/9 -
19-41522715-C-A CYP2B6 c.1459C>A p.Arg487Ser Missense 9/9 -
7-87214848-A-G ABCB1 c.266T>C p.Met89Thr Missense 5/29 -
8-18079213-C-T NAT1 c.1-344C>T - IntronicSNV - 2/2
2-170010985-T-C LRP2 c.12280A>G p.Lys4094Glu Missense 66/79 -
15-75045692-T-C CYP1A2 c.1253+81T>C - IntronicSNV - 6/6
17-37879588-A-G ERBB2 c.1963A>G p.Ile655Val Missense 17/27 -
19-41512918-T-C CYP2B6 c.593T>C p.Met198Thr Missense 4/9 -
8-24775619-A-C NEFM c.2251A>C p.Lys751Gln Missense 3/3 -
1-162085685-G-T NOS1AP c.106-38510G>T - IntronicSNV - 1/9
3-165547569-C-A BCHE c.1253G>T p.Gly418Val Missense 2/4 -
1-98157332-G-A DPYD c.703C>T p.Arg235Trp Missense 7/23 -
3-165548529-T-C BCHE c.293A>G p.Asp98Gly Missense 2/4 -
12-21358933-G-C SLCO1B1 c.1463G>C p.Gly488Ala Missense 11/15 -
2-85780536-C-T GGCX c.974G>A p.Arg325Gln Missense 8/15 -
19-41356234-A-G CYP2A6 c.98T>C p.Leu33Pro Missense 1/9 -
10-96748777-C-T CYP2C9 c.1465C>T p.Pro489Ser Missense 9/9 -
16-16162019-T-C ABCC1 c.1684T>C p.Leu562Leu Synonymous 13/31 -
4-69432948-T-C UGT2B17 c.724+531A>G - IntronicSNV - 1/5
X-153765166-G-C G6PD c.211-773C>G - IntronicSNV - 2/12
X-153765166-G-A G6PD c.211-773C>T - IntronicSNV - 2/12
3-38593393-T-C SCN5A c.4814-344A>G - IntronicSNV - 27/27
12-21378021-G-A SLCO1B1 c.1865+248G>A - IntronicSNV - 14/14
1-98348885-G-A DPYD c.85C>T p.Arg29Cys Missense 2/23 -
4-89055379-G-A ABCG2 c.204-1592C>T - IntronicSNV - 2/15
19-41518221-T-C CYP2B6 c.983T>C p.Ile328Thr Missense 7/9 -
1-97839133-C-G DPYD c.2042G>C p.Gly681Ala Missense 16/23 -
X-113960649-G-A HTR2C c.1-697G>A - IntronicSNV 1/6 -
22-19930121-A-G COMT c.-92+701A>G - intron_variant - 1/5
3-119615375-T-C GSK3B c.813+9227A>G - IntronicSNV - 7/10
10-73773014-G-A CHST3 c.*4785G>A - 3-UTRSNV 3/3 -
7-87199564-C-A ABCB1 c.287-25G>T - IntronicSNV - 5/28
8-37823798-A-G ADRB3 c.190T>C p.Trp64Arg Missense 1/2 -
7-87157051-G-A ABCB1 c.2685+3559C>T - IntronicSNV - 22/28
22-42522613-G-C CYP2D6 c.1457C>G p.Thr486Ser Missense 9/9 -
21-37518706-G-A CBR3 c.730G>A p.Val244Met Missense 3/3 -
10-101572819-G-T ABCC2 c.2012G>T p.Gly671Val Missense 16/32 -
11-120663363-T-C GRIK4 c.83-10039T>C - IntronicSNV - 3/20
17-61568699-TG-AC ACE c.2869_2870delTGinsAC p.Cys957Thr Missense 19/25 -
9-4567353-C-G SLC1A1 c.484-316C>G - IntronicSNV - 5/11
1-11850904-C-T MTHFR c.1804G>A p.Glu602Lys Missense 12/12 -
2-234669142-A-G UGT1A1 c.209A>G p.Asp70Gly Missense 1/5 -
11-74876840-C-T SLCO2B1 c.294C>T p.Asn98Asn Synonymous 4/14 -
13-95714976-C-G ABCC4 c.3348G>C p.Lys1116Asn Missense 26/31 -
16-31105353-G-A VKORC1 c.173+525C>T - IntronicSNV - 1/2
11-113283688-C-A DRD2 c.811-83G>T - IntronicSNV - 6/7
16-31102321-C-T VKORC1 c.*134G>A - 3-UTRSNV 3/3 -
19-41515107-C-T CYP2B6 c.646-17C>T - IntronicSNV - 4/8
2-234665659-T-G UGT1A4 c.868-10021T>G - IntronicSNV - 1/4
10-96800873-T-C CYP2C8 c.1149+1774A>G - IntronicSNV - 7/8
3-148459395-C-T AGTR1 c.573C>T p.Leu191Leu Synonymous 3/3 -
1-98060689-T-C DPYD c.884A>G p.Gln295Arg Missense 9/23 -
8-18257877-G-T NAT2 c.364G>T p.Asp122Tyr Missense 2/2 -
3-186454180-A-C KNG1 c.931-2708A>C - IntronicSNV - 7/9
14-105239192-T-C AKT1 c.1172+23A>G - IntronicSNV - 11/13
2-38298203-C-G CYP1B1 c.1294G>C p.Val432Leu Missense 3/3 -
19-41350664-A-T CYP2A6 c.1175T>A p.Phe392Tyr Missense 8/9 -
11-58391501-G-A CNTF c.115-6G>A - IntronicSNV - 1/1
10-101611294-G-A ABCC2 c.4544G>A p.Cys1515Tyr Missense 32/32 -
8-18257877-G-C NAT2 c.364G>C p.Asp122His Missense 2/2 -
8-18080115-C-T NAT1 c.559C>T p.Arg187* Nonsense 3/3 -
8-18257703-C-T NAT2 c.190C>T p.Arg64Trp Missense 2/2 -
7-99247772-A-G CYP3A5 c.1337T>C p.Phe446Ser Missense 12/13 -
7-87199564-C-T ABCB1 c.287-25G>A - IntronicSNV - 5/28
16-31103796-A-G VKORC1 c.283+837T>C - IntronicSNV - 2/2
9-136131322-G-T ABO c.793C>A - missense_variant 8/8 -
10-96609568-T-C CYP2C19 c.1150-106T>C - IntronicSNV - 7/8
8-18079746-C-T NAT1 c.190C>T p.Arg64Trp Missense 3/3 -
10-101595996-T-A ABCC2 c.3563T>A p.Val1188Glu Missense 25/32 -
9-86905119-C-T SLC28A3 c.1099G>A p.Gly367Arg Missense 12/19 -
X-113960649-G-C HTR2C c.1-697G>C - IntronicSNV 1/6 -
3-186459227-A-G KNG1 c.1126-84A>G - IntronicSNV - 9/9
22-19956781-G-A COMT c.*522G>A - 3-UTRSNV 6/6 -
3-119526349-G-A NR1I2 c.197+55G>A - IntronicSNV - 2/8
7-87230193-A-G ABCB1 c.-129T>C - 5_prime_UTR_variant 2/29 -
6-33753673-G-A LEMD2 c.777+838C>T - IntronicSNV - 2/8
7-150667210-C-T KCNH2 c.307+4589G>A - IntronicSNV - 2/14
7-150667210-C-A KCNH2 c.307+4589G>T - IntronicSNV - 2/14
7-99262835-C-T CYP3A5 c.624G>A p.Lys208Lys Synonymous 7/13 -
10-96602622-C-T CYP2C19 c.990C>T p.Val330Val Synonymous 7/9 -
8-18080440-A-C NAT1 c.*11A>C - 3-UTRSNV 3/3 -
9-125133507-C-T PTGS1 c.50C>T p.Pro17Leu Missense 2/11 -
7-87174198-G-A ABCB1 c.2005C>T p.Arg669Cys Missense 17/29 -
12-48251333-T-C VDR c.416A>G p.His139Arg Missense 5/10 -
2-234665659-T-A UGT1A4 c.868-10021T>A - IntronicSNV - 1/4
9-4564432-G-A SLC1A1 c.414G>A p.Thr138Thr Synonymous 4/12 -
22-42523943-A-G CYP2D6 c.886T>C p.Cys296Arg Missense 6/9 -
22-42523943-A-T CYP2D6 c.886T>A p.Cys296Ser Missense 6/9 -
22-42525035-C-T CYP2D6 c.505G>A p.Gly169Arg Missense 3/9 -
3-119612942-C-A GSK3B c.813+11660G>T - IntronicSNV - 7/10
7-87179601-A-T ABCB1 c.1236T>A p.Gly412Gly Synonymous 13/29 -
7-87179601-A-C ABCB1 c.1236T>G p.Gly412Gly Synonymous 13/29 -
14-96671139-C-T BDKRB2 c.-192C>T - 5_prime_UTR_variant 1/3 -
19-41524153-T-C CYP2B6 c.*1421T>C - 3-UTRSNV 9/9 -
6-110778128-T-C SLC22A16 c.146A>G p.His49Arg Missense 2/8 -
17-61565990-G-C ACE c.2306-19G>C - IntronicSNV - 15/24
12-21382619-T-C SLCO1B1 c.1865+4846T>C - IntronicSNV - 14/14
19-45854919-T-A ERCC2 c.2251A>T p.Lys751* Nonsense 23/23 -
3-165548010-G-A BCHE c.812C>T p.Thr271Met Missense 2/4 -
16-16236004-T-A ABCC1 c.*866T>A - 3-UTRSNV 31/31 -
6-31778272-G-T HSPA1L c.1478C>A p.Thr493Lys Missense 2/2 -
10-96707539-C-T CYP2C9 c.485C>T p.Ser162Leu Missense 4/9 -
7-99264573-A-G CYP3A5 c.432+2T>C - IntronicSNV - 5/12
7-99264573-A-T CYP3A5 c.432+2T>A - IntronicSNV - 5/12
16-16213872-G-A ABCC1 c.3391-1960G>A - IntronicSNV - 23/30
15-75042637-C-A CYP1A2 c.558C>A p.Phe186Leu Missense 2/7 -
11-74883577-G-A SLCO2B1 c.935G>A p.Arg312Gln Missense 7/14 -
7-150693989-C-T NOS3 c.558C>T p.Gly186Gly Synonymous 5/27 -
13-95714976-C-T ABCC4 c.3348G>A p.Lys1116Lys Synonymous 26/31 -
7-87153585-A-C ABCB1 c.2686-3393T>G - IntronicSNV - 22/28
11-113803887-A-G HTR3B c.696+72A>G - IntronicSNV - 6/8
19-11230829-G-C LDLR c.1907G>C p.Gly636Ala Missense 13/18 -
3-38648252-G-C SCN5A c.1048C>G p.His350Asp Missense 9/28 -
7-87153585-A-G ABCB1 c.2686-3393T>C - IntronicSNV - 22/28
6-160575837-G-A SLC22A1 c.1393G>A p.Gly465Arg Missense 9/11 -
16-31104509-C-T VKORC1 c.283+124G>A - IntronicSNV - 2/2
6-160575837-G-C SLC22A1 c.1393G>C p.Gly465Arg Missense 9/11 -
16-31104509-C-G VKORC1 c.283+124G>C - IntronicSNV - 2/2
6-18139228-C-T TPMT c.460G>A p.Ala154Thr Missense 6/9 -
3-152554379-G-T P2RY1 c.808G>T p.Ala270Ser Missense 1/1 -
2-234665782-G-A UGT1A4 c.868-9898G>A - IntronicSNV - 1/4
6-160663420-T-G SLC22A2 c.1294A>C p.Lys432Gln Missense 8/11 -
2-234526707-C-T UGT1A8 c.354C>T p.Asn118Asn Synonymous 1/5 -
13-47411985-A-G HTR2A c.614-2211T>C - IntronicSNV - 3/3
16-16119024-A-G ABCC1 c.616-7942A>G - IntronicSNV - 5/30
4-89078924-T-C ABCG2 c.-20+614A>G - intron_variant - 1/15
1-97700417-G-A DPYD c.2433C>T p.Ser811Ser Synonymous 19/23 -
7-87169356-C-T ABCB1 c.2320-695G>A - IntronicSNV - 19/28
11-67353579-C-T GSTP1 c.341C>T p.Ala114Val Missense 6/7 -
10-96818106-T-A CYP2C8 c.805A>T p.Ile269Phe Missense 5/9 -
X-77243870-AC-TG ATP7A c.253_254delACinsTG p.Thr85Cys Missense 3/23 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
10-96798749-T-C CYP2C8 c.1196A>G p.Lys399Arg Missense 8/9 -
14-96729655-A-G BDKRB1 c.1-365A>G - IntronicSNV - 1/2
10-101563815-G-A ABCC2 c.1249G>A p.Val417Ile Missense 10/32 -
7-99250394-A-AA CYP3A5 c.1035_1035dup p.Thr346Tyrfs*3 Frameshift 11/13 -
7-150671907-C-A KCNH2 c.199G>T p.Asp67Tyr Missense 2/15 -
6-18134076-T-A TPMT c.539A>T p.Tyr180Phe Missense 7/9 -
6-18134076-T-C TPMT c.539A>G p.Tyr180Cys Missense 7/9 -
10-73772762-C-T CHST3 c.*4533C>T - 3-UTRSNV 3/3 -
8-18080308-A-T NAT1 c.752A>T p.Asp251Val Missense 3/3 -
19-41497274-C-T CYP2B6 c.64C>T p.Arg22Cys Missense 1/9 -
X-77268502-G-C ATP7A c.2299G>C p.Val767Leu Missense 10/23 -
10-114808902-G-T TCF7L2 c.483+9017G>T - IntronicSNV - 4/13
10-114808902-G-A TCF7L2 c.483+9017G>A - IntronicSNV - 4/13
3-151057642-G-C P2RY12 c.-15+742C>G - intron_variant - 2/2
3-151057642-G-A P2RY12 c.-15+742C>T - intron_variant - 2/2
1-97543959-C-T DPYD c.*573G>A - 3-UTRSNV 23/23 -
10-135351362-T-C CYP2E1 c.1263T>C p.Phe421Phe Synonymous 8/9 -
10-135351362-T-G CYP2E1 c.1263T>G p.Phe421Leu Missense 8/9 -
10-96707539-C-A CYP2C9 c.485C>A p.Ser162* Nonsense 4/9 -
16-16177275-G-A ABCC1 c.2168G>A p.Arg723Gln Missense 17/31 -
8-63949912-G-A GGH c.109+1307C>T - IntronicSNV - 1/8
10-96534768-G-A CYP2C19 c.169-47G>A - IntronicSNV - 1/8
10-96534768-G-C CYP2C19 c.169-47G>C - IntronicSNV - 1/8
1-47279175-C-T CYP4B1 c.517C>T p.Arg173Trp Missense 5/12 -
6-33753673-G-C LEMD2 c.777+838C>G - IntronicSNV - 2/8
1-98165091-T-C DPYD c.496A>G p.Met166Val Missense 6/23 -
1-97981395-T-C DPYD c.1627A>G p.Ile543Val Missense 13/23 -
12-53344318-G-T KRT18 c.500+124G>T - IntronicSNV - 3/7
16-56996288-G-A CETP c.118+279G>A - IntronicSNV - 1/15
6-31777946-C-T HSPA1L c.1804G>A p.Glu602Lys Missense 2/2 -
7-99366081-A-G CYP3A4 c.566T>C p.Phe189Ser Missense 7/13 -
2-234668570-C-T UGT1A4 c.868-7110C>T - IntronicSNV - 1/4
3-119557851-A-T GSK3B c.1195+4251T>A - IntronicSNV - 10/10
16-57007317-C-A CETP c.825C>A p.Ser275Ser Synonymous 9/16 -
15-75044238-G-A CYP1A2 c.1042+43G>A - IntronicSNV - 4/6
16-16110891-G-A ABCC1 c.615+413G>A - IntronicSNV - 5/30
10-96540367-T-C CYP2C19 c.593T>C p.Met198Thr Missense 4/9 -
11-108239628-G-T ATM c.*3393G>T - 3-UTRSNV 63/63 -
3-38620907-G-T SCN5A c.3308C>A p.Ser1103Tyr Missense 18/28 -
X-153761165-CT-TA G6PD c.1132_1133delAGinsTA p.Arg378* Nonsense 9/13 -
16-31104878-G-A VKORC1 c.174-136C>T - IntronicSNV - 1/2
16-31104878-G-C VKORC1 c.174-136C>G - IntronicSNV - 1/2
16-57007317-C-T CETP c.825C>T p.Ser275Ser Synonymous 9/16 -
1-226026406-A-T EPHX1 c.416A>T p.His139Leu Missense 4/9 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
X-153771296-C-T G6PD c.210+2955G>A - IntronicSNV - 2/12
10-73772014-G-A CHST3 c.*3785G>A - 3-UTRSNV 3/3 -
22-42523858-T-G CYP2D6 c.971A>C p.His324Pro Missense 6/9 -
10-73772014-G-C CHST3 c.*3785G>C - 3-UTRSNV 3/3 -
8-18257994-C-T NAT2 c.481C>T p.Leu161Leu Synonymous 2/2 -
15-75042204-C-G CYP1A2 c.125C>G p.Pro42Arg Missense 2/7 -
11-34460704-C-T CAT c.66+78C>T - IntronicSNV - 1/12
11-34460704-C-G CAT c.66+78C>G - IntronicSNV - 1/12
16-57007317-C-G CETP c.825C>G p.Ser275Ser Synonymous 9/16 -
10-96745830-A-C CYP2C9 c.1190A>C p.Asp397Ala Missense 8/9 -
11-116703640-G-C APOC3 c.*40G>C - 3-UTRSNV 4/4 -
2-234681059-T-A UGT1A1 c.1456T>A p.Tyr486Asn Missense 5/5 -
10-96811045-G-C CYP2C8 c.820-5337C>G - IntronicSNV - 5/8
6-16318633-T-A ATXN1 c.1917+7992A>T - IntronicSNV - 8/8
8-18080196-T-G NAT1 c.640T>G p.Ser214Ala Missense 3/3 -
1-97848140-G-T DPYD c.1906-123C>A - IntronicSNV - 14/22
2-234669661-CT-TG UGT1A1 c.728_729delCTinsTG p.Thr243Met Missense 1/5 -
13-47409034-G-A HTR2A c.1354C>T p.His452Tyr Missense 4/4 -
6-18143955-C-G TPMT c.238G>C p.Ala80Pro Missense 4/9 -
3-165547569-C-G BCHE c.1253G>C p.Gly418Ala Missense 2/4 -
3-165547569-C-T BCHE c.1253G>A p.Gly418Asp Missense 2/4 -
15-75047169-C-T CYP1A2 c.1291C>T p.Arg431Trp Missense 7/7 -
7-30716087-G-A CRHR2 c.310+5444C>T - IntronicSNV - 3/12
7-30716087-G-C CRHR2 c.310+5444C>G - IntronicSNV - 3/12
6-160677669-C-G SLC22A2 c.495G>C p.Met165Ile Missense 2/11 -
2-234681059-T-G UGT1A1 c.1456T>G p.Tyr486Asp Missense 5/5 -
2-234681059-T-C UGT1A1 c.1456T>C p.Tyr486His Missense 5/5 -
15-75045575-G-A CYP1A2 c.1217G>A p.Cys406Tyr Missense 6/7 -
6-160677669-C-T SLC22A2 c.495G>A p.Met165Ile Missense 2/11 -
8-18080440-A-G NAT1 c.*11A>G - 3-UTRSNV 3/3 -
9-4572480-T-G SLC1A1 c.767+92T>G - IntronicSNV - 7/11
7-55229255-G-A EGFR c.1562G>A p.Arg521Lys Missense 13/28 -
2-234667937-G-A UGT1A4 c.868-7743G>A - IntronicSNV - 1/4
6-31778272-G-A HSPA1L c.1478C>T p.Thr493Met Missense 2/2 -
6-31778272-G-C HSPA1L c.1478C>G p.Thr493Arg Missense 2/2 -
7-55229255-G-T EGFR c.1562G>T p.Arg521Met Missense 13/28 -
10-73769590-C-T CHST3 c.*1361C>T - 3-UTRSNV 3/3 -
8-63951237-C-T GGH c.91G>A p.Ala31Thr Missense 1/9 -
1-97770911-T-C DPYD c.2203A>G p.Thr735Ala Missense 18/23 -
8-63951237-C-A GGH c.91G>T p.Ala31Ser Missense 1/9 -
7-150644394-C-A KCNH2 c.3152+22G>T - IntronicSNV - 13/14
16-16110891-G-C ABCC1 c.615+413G>C - IntronicSNV - 5/30
10-96522559-C-T CYP2C19 c.97C>T p.Pro33Ser Missense 1/9 -
8-18080015-G-A NAT1 c.459G>A p.Thr153Thr Synonymous 3/3 -
8-18080015-G-T NAT1 c.459G>T p.Thr153Thr Synonymous 3/3 -
10-96740981-C-T CYP2C9 c.1003C>T p.Arg335Trp Missense 7/9 -
7-87138758-A-G ABCB1 c.3322T>C p.Trp1108Arg Missense 27/29 -
9-4572480-T-C SLC1A1 c.767+92T>C - IntronicSNV - 7/11
19-41510282-A-G CYP2B6 c.415A>G p.Lys139Glu Missense 3/9 -
15-75041341-T-G CYP1A2 c.-10+103T>G - intron_variant - 1/6
12-6954875-C-T GNB3 c.825C>T p.Ser275Ser Synonymous 9/10 -
12-21329817-A-G SLCO1B1 c.467A>G p.Glu156Gly Missense 5/15 -
10-73772014-G-T CHST3 c.*3785G>T - 3-UTRSNV 3/3 -
3-37070354-CG-AA MLH1 c.1489_1490delCGinsAA p.Arg497Lys Missense 13/19 -
1-155279482-T-G FDPS c.1-99T>G - IntronicSNV - 1/10
12-21392011-A-G SLCO1B1 c.1964A>G p.Asp655Gly Missense 15/15 -
3-186650790-A-G ST6GAL1 c.-325+2167A>G - intron_variant - 1/7
8-18080015-G-C NAT1 c.459G>C p.Thr153Thr Synonymous 3/3 -