PMID: 21712189

Analysis of pharmacogenetic traits in two distinct South African populations.

Human genomics
O Ikediobi, B Aouizerat, Y Xiao, M Gandhi, S Gebhardt, L Warnich
2011-05

194 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-101593385-G-A ABCC2 c.3259-752G>A - IntronicSNV - 23/31
2-234677659-C-T UGT1A1 c.1304+574C>T - IntronicSNV - 4/4
7-87144816-G-A ABCB1 c.3085-72C>T - IntronicSNV - 25/28
10-101593385-G-T ABCC2 c.3259-752G>T - IntronicSNV - 23/31
19-41524153-T-C CYP2B6 c.*1421T>C - 3-UTRSNV 9/9 -
10-101566179-A-T ABCC2 c.1531-962A>T - IntronicSNV - 11/31
7-99358524-A-G CYP3A4 c.1331T>C p.Met444Thr Missense 12/13 -
19-41518598-T-A CYP2B6 c.1172T>A p.Ile391Asn Missense 8/9 -
10-101610533-C-T ABCC2 c.4488C>T p.His1496His Synonymous 31/32 -
7-99365451-A-T CYP3A4 c.670+526T>A - IntronicSNV - 7/12
7-99365451-A-G CYP3A4 c.670+526T>C - IntronicSNV - 7/12
7-87179809-C-T ABCB1 c.1199G>A p.Ser400Asn Missense 12/29 -
7-87190086-A-G ABCB1 c.827+493T>C - IntronicSNV - 9/28
7-87162341-A-G ABCB1 c.2482-1528T>C - IntronicSNV - 21/28
10-96599510-G-A CYP2C19 c.962-3084G>A - IntronicSNV - 6/8
10-96495793-C-A CYP2C18 c.*592C>A - 3-UTRSNV 9/9 -
10-96468899-G-A CYP2C18 c.819+2182G>A - IntronicSNV - 5/8
10-101568013-C-G ABCC2 c.1815+27C>G - IntronicSNV - 13/31
10-96466078-G-T CYP2C18 c.643-463G>T - IntronicSNV - 4/8
7-87174066-T-G ABCB1 c.2064+73A>C - IntronicSNV - 17/28
10-96466270-C-A CYP2C18 c.643-271C>A - IntronicSNV - 4/8
7-87221216-A-G ABCB1 c.117+3866T>C - IntronicSNV - 4/28
2-234665782-G-A UGT1A4 c.868-9898G>A - IntronicSNV - 1/4
19-41510030-G-A CYP2B6 c.296G>A p.Gly99Glu Missense 2/9 -
19-41520142-A-G CYP2B6 c.1294+1422A>G - IntronicSNV - 8/8
7-87224251-C-T ABCB1 c.117+831G>A - IntronicSNV - 4/28
10-96488469-C-T CYP2C18 c.1149+4179C>T - IntronicSNV - 7/8
19-41500213-T-C CYP2B6 c.171+2832T>C - IntronicSNV - 1/8
11-62748699-G-A SLC22A6 c.921+33C>T - IntronicSNV - 5/9
7-87274543-C-T ABCB1 c.1-45043G>A - IntronicSNV - 1/28
10-96454156-G-A CYP2C18 c.482-518G>A - IntronicSNV - 3/8
10-101572016-C-A ABCC2 c.1967+657C>A - IntronicSNV - 15/31
7-87229440-T-C ABCB1 c.61A>G p.Asn21Asp Missense 3/29 -
7-87137018-C-T ABCB1 c.3489+1573G>A - IntronicSNV - 27/28
7-87179443-G-A ABCB1 c.1350+44C>T - IntronicSNV - 13/28
10-96575242-C-T CYP2C19 c.820-5011C>T - IntronicSNV - 5/8
10-96575242-C-A CYP2C19 c.820-5011C>A - IntronicSNV - 5/8
7-87141497-A-C ABCB1 c.3283-2700T>G - IntronicSNV - 26/28
19-41504077-C-G CYP2B6 c.172-5829C>G - IntronicSNV - 1/8
7-99356324-A-C CYP3A4 c.1414-473T>G - IntronicSNV - 12/12
7-87154646-A-G ABCB1 c.2686-4454T>C - IntronicSNV - 22/28
7-99359670-G-C CYP3A4 c.1244C>G p.Pro415Arg Missense 11/13 -
7-99359670-G-A CYP3A4 c.1244C>T p.Pro415Leu Missense 11/13 -
7-87141497-A-T ABCB1 c.3283-2700T>A - IntronicSNV - 26/28
7-87334841-T-C ABCB1 c.-331+7636A>G - intron_variant - 1/28
7-87270500-T-A ABCB1 c.-330-40106A>T - intron_variant - 1/28
7-99302994-C-T CYP3A7 c.*129G>A - 3-UTRSNV 13/13 -
2-234668570-C-T UGT1A4 c.868-7110C>T - IntronicSNV - 1/4
2-234670560-T-C UGT1A1 c.864+763T>C - IntronicSNV - 1/4
2-234671462-G-T UGT1A1 c.864+1665G>T - IntronicSNV - 1/4
7-99248304-C-T CYP3A5 c.1254-449G>A - IntronicSNV - 11/12
7-87219481-G-C ABCB1 c.118-4485C>G - IntronicSNV - 4/28
7-99260092-T-C CYP3A5 c.865+347A>G - IntronicSNV - 9/12
7-87233485-T-A ABCB1 c.1-3985A>T - IntronicSNV - 1/28
7-99366081-A-G CYP3A4 c.566T>C p.Phe189Ser Missense 7/13 -
10-101594729-G-A ABCC2 c.3414+437G>A - IntronicSNV - 24/31
19-41515702-T-A CYP2B6 c.823-197T>A - IntronicSNV - 5/8
19-41515702-T-C CYP2B6 c.823-197T>C - IntronicSNV - 5/8
7-87202615-C-T ABCB1 c.287-3076G>A - IntronicSNV - 5/28
7-87148265-G-T ABCB1 c.2927+377C>A - IntronicSNV - 24/28
7-99275083-C-T CYP3A5 c.72-1252G>A - IntronicSNV - 1/12
7-87244960-C-T ABCB1 c.-330-14566G>A - intron_variant - 1/28
10-96493709-A-G CYP2C18 c.1291+514A>G - IntronicSNV - 8/8
7-87212990-T-A ABCB1 c.286+1838A>T - IntronicSNV - 5/28
2-234676118-A-G UGT1A1 c.996+307A>G - IntronicSNV - 2/4
7-87216150-G-A ABCB1 c.118-1154C>T - IntronicSNV - 4/28
19-41521638-G-A CYP2B6 c.1295-913G>A - IntronicSNV - 8/8
11-62749680-T-C SLC22A6 c.629-198A>G - IntronicSNV - 3/9
2-234681645-G-C UGT1A1 c.*440G>C - 3-UTRSNV 5/5 -
2-234667937-G-A UGT1A4 c.868-7743G>A - IntronicSNV - 1/4
7-99325882-C-A CYP3A7 c.165+2800G>T - IntronicSNV - 2/12
10-101558634-A-T ABCC2 c.868-330A>T - IntronicSNV - 7/31
19-41497346-A-T CYP2B6 c.136A>T p.Met46Leu Missense 1/9 -
19-41497346-A-G CYP2B6 c.136A>G p.Met46Val Missense 1/9 -
7-87209150-G-C ABCB1 c.286+5678C>G - IntronicSNV - 5/28
7-87215114-A-C ABCB1 c.118-118T>G - IntronicSNV - 4/28
7-87212461-G-A ABCB1 c.286+2367C>T - IntronicSNV - 5/28
10-101587931-C-T ABCC2 c.2621-2133C>T - IntronicSNV - 19/31
7-87164986-A-G ABCB1 c.2481+788T>C - IntronicSNV - 21/28
7-87164483-G-A ABCB1 c.2481+1291C>T - IntronicSNV - 21/28
10-96466938-G-A CYP2C18 c.819+221G>A - IntronicSNV - 5/8
7-87209150-G-A ABCB1 c.286+5678C>T - IntronicSNV - 5/28
7-87201380-T-C ABCB1 c.287-1841A>G - IntronicSNV - 5/28
7-87160561-A-G ABCB1 c.2685+49T>C - IntronicSNV - 22/28
7-87141751-C-A ABCB1 c.3282+2796G>T - IntronicSNV - 26/28
7-87330423-G-A ABCB1 c.-331+12054C>T - intron_variant - 1/28
7-87140808-A-G ABCB1 c.3283-2011T>C - IntronicSNV - 26/28
10-96464730-G-A CYP2C18 c.643-1811G>A - IntronicSNV - 4/8
7-99316423-G-T CYP3A7 c.319-1161C>A - IntronicSNV - 4/12
7-87216817-G-T ABCB1 c.118-1821C>A - IntronicSNV - 4/28
7-87216817-G-A ABCB1 c.118-1821C>T - IntronicSNV - 4/28
7-87225046-G-A ABCB1 c.117+36C>T - IntronicSNV - 4/28
7-87220886-A-G ABCB1 c.117+4196T>C - IntronicSNV - 4/28
7-99316423-G-A CYP3A7 c.319-1161C>T - IntronicSNV - 4/12
10-96465938-G-T CYP2C18 c.643-603G>T - IntronicSNV - 4/8
7-87139316-A-G ABCB1 c.3283-519T>C - IntronicSNV - 26/28
10-96465938-G-A CYP2C18 c.643-603G>A - IntronicSNV - 4/8
10-96465938-G-C CYP2C18 c.643-603G>C - IntronicSNV - 4/8
10-101592622-A-G ABCC2 c.3258+734A>G - IntronicSNV - 23/31
7-87219481-G-A ABCB1 c.118-4485C>T - IntronicSNV - 4/28
7-99361626-A-G CYP3A4 c.875T>C p.Leu292Pro Missense 10/13 -
7-87233038-G-A ABCB1 c.1-3538C>T - IntronicSNV - 1/28
7-87174066-T-A ABCB1 c.2064+73A>T - IntronicSNV - 17/28
7-87174066-T-C ABCB1 c.2064+73A>G - IntronicSNV - 17/28
19-41504077-C-T CYP2B6 c.172-5829C>T - IntronicSNV - 1/8
7-87173667-A-T ABCB1 c.2065-76T>A - IntronicSNV - 17/28
10-101610723-A-G ABCC2 c.4508+170A>G - IntronicSNV - 31/31
7-99376906-C-A CYP3A4 c.165+709G>T - IntronicSNV - 2/12
7-87195850-T-C ABCB1 c.530+251A>G - IntronicSNV - 7/28
7-87213901-C-T ABCB1 c.286+927G>A - IntronicSNV - 5/28
10-96488997-T-A CYP2C18 c.1150-4057T>A - IntronicSNV - 7/8
7-87200467-T-A ABCB1 c.287-928A>T - IntronicSNV - 5/28
10-96495232-C-T CYP2C18 c.*31C>T - 3-UTRSNV 9/9 -
19-41500300-T-C CYP2B6 c.171+2919T>C - IntronicSNV - 1/8
19-41518370-C-T CYP2B6 c.1132C>T p.Arg378* Nonsense 7/9 -
10-96469632-C-T CYP2C18 c.819+2915C>T - IntronicSNV - 5/8
7-87278760-G-A ABCB1 c.-330-48366C>T - intron_variant - 1/28
10-96469632-C-A CYP2C18 c.819+2915C>A - IntronicSNV - 5/8
10-101591944-T-C ABCC2 c.3258+56T>C - IntronicSNV - 23/31
7-99318808-C-T CYP3A7 c.219-773G>A - IntronicSNV - 3/12
10-96488888-G-A CYP2C18 c.1150-4166G>A - IntronicSNV - 7/8
19-41510286-G-C CYP2B6 c.419G>C p.Arg140Pro Missense 3/9 -
2-234681416-T-C UGT1A1 c.*211T>C - 3-UTRSNV 5/5 -
2-234667582-A-T UGT1A4 c.868-8098A>T - IntronicSNV - 1/4
2-234667582-A-C UGT1A4 c.868-8098A>C - IntronicSNV - 1/4
2-234667582-A-G UGT1A4 c.868-8098A>G - IntronicSNV - 1/4
19-41516182-C-T CYP2B6 c.964+142C>T - IntronicSNV - 6/8
19-41510286-G-A CYP2B6 c.419G>A p.Arg140Gln Missense 3/9 -
10-101567426-A-T ABCC2 c.1668+148A>T - IntronicSNV - 12/31
11-62752289-C-T SLC22A6 c.1-127G>A - 5-UTRSNV 1/10 -
19-41498733-T-C CYP2B6 c.171+1352T>C - IntronicSNV - 1/8
2-234674252-C-G UGT1A1 c.865-1428C>G - IntronicSNV - 1/4
7-87165734-G-A ABCB1 c.2481+40C>T - IntronicSNV - 21/28
7-87141814-T-C ABCB1 c.3282+2733A>G - IntronicSNV - 26/28
2-234674252-C-T UGT1A1 c.865-1428C>T - IntronicSNV - 1/4
7-87179143-A-G ABCB1 c.1554+24T>C - IntronicSNV - 14/28
7-87152103-A-G ABCB1 c.2686-1911T>C - IntronicSNV - 22/28
2-234674476-A-G UGT1A1 c.865-1204A>G - IntronicSNV - 1/4
7-87141751-C-T ABCB1 c.3282+2796G>A - IntronicSNV - 26/28
7-87190452-C-T ABCB1 c.827+127G>A - IntronicSNV - 9/28
10-101558746-G-T ABCC2 c.868-218G>T - IntronicSNV - 7/31
19-41518773-C-T CYP2B6 c.1294+53C>T - IntronicSNV - 8/8
10-101566866-T-A ABCC2 c.1531-275T>A - IntronicSNV - 11/31
19-41510127-A-G CYP2B6 c.334+59A>G - IntronicSNV - 2/8
19-41510127-A-T CYP2B6 c.334+59A>T - IntronicSNV - 2/8
7-87163049-C-T ABCB1 c.2482-2236G>A - IntronicSNV - 21/28
10-101592689-T-G ABCC2 c.3258+801T>G - IntronicSNV - 23/31
19-41508020-C-G CYP2B6 c.172-1886C>G - IntronicSNV - 1/8
7-87271274-A-G ABCB1 c.1-41774T>C - IntronicSNV - 1/28
7-87221798-C-A ABCB1 c.117+3284G>T - IntronicSNV - 4/28
10-101566179-A-G ABCC2 c.1531-962A>G - IntronicSNV - 11/31
10-96576110-T-C CYP2C19 c.820-4143T>C - IntronicSNV - 5/8
7-87233485-T-C ABCB1 c.1-3985A>G - IntronicSNV - 1/28
7-87324386-G-A ABCB1 c.-331+18091C>T - intron_variant - 1/28
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 -
19-41520351-C-T CYP2B6 c.1294+1631C>T - IntronicSNV - 8/8
2-234672663-G-T UGT1A1 c.864+2866G>T - IntronicSNV - 1/4
2-234679384-C-T UGT1A1 c.1305-1524C>T - IntronicSNV - 4/4
19-41512918-T-C CYP2B6 c.593T>C p.Met198Thr Missense 4/9 -
10-101605550-G-C ABCC2 c.4146+11G>C - IntronicSNV - 29/31
10-101605550-G-T ABCC2 c.4146+11G>T - IntronicSNV - 29/31
11-62749680-T-A SLC22A6 c.629-198A>T - IntronicSNV - 3/9
7-99266318-G-A CYP3A5 c.319-1630C>T - IntronicSNV - 4/12
7-87151090-T-A ABCB1 c.2686-898A>T - IntronicSNV - 22/28
7-87141174-G-C ABCB1 c.3283-2377C>G - IntronicSNV - 26/28
7-87164986-A-T ABCB1 c.2481+788T>A - IntronicSNV - 21/28
7-87185894-G-A ABCB1 c.828-2646C>T - IntronicSNV - 9/28
10-101567426-A-G ABCC2 c.1668+148A>G - IntronicSNV - 12/31
7-87151090-T-C ABCB1 c.2686-898A>G - IntronicSNV - 22/28
7-87213384-C-T ABCB1 c.286+1444G>A - IntronicSNV - 5/28
7-87157051-G-A ABCB1 c.2685+3559C>T - IntronicSNV - 22/28
7-87193597-G-A ABCB1 c.702+1789C>T - IntronicSNV - 8/28
2-234617236-G-A UGT1A10 c.856-58444G>A - IntronicSNV - 1/4
7-87141174-G-T ABCB1 c.3283-2377C>A - IntronicSNV - 26/28
7-99325882-C-T CYP3A7 c.165+2800G>A - IntronicSNV - 2/12
7-99363813-G-C CYP3A4 c.862+187C>G - IntronicSNV - 9/12
10-101587569-C-T ABCC2 c.2621-2495C>T - IntronicSNV - 19/31
7-99367427-C-T CYP3A4 c.485G>A p.Arg162Gln Missense 6/13 -
10-101605693-A-G ABCC2 c.4146+154A>G - IntronicSNV - 29/31
7-87210974-C-T ABCB1 c.286+3854G>A - IntronicSNV - 5/28
7-87210974-C-A ABCB1 c.286+3854G>T - IntronicSNV - 5/28
7-99370493-T-G CYP3A4 c.219-181A>C - IntronicSNV - 3/12
7-99370493-T-C CYP3A4 c.219-181A>G - IntronicSNV - 3/12
2-234677386-G-A UGT1A1 c.1304+301G>A - IntronicSNV - 4/4
10-96446632-G-A CYP2C18 c.169-895G>A - IntronicSNV - 1/8
10-96609568-T-C CYP2C19 c.1150-106T>C - IntronicSNV - 7/8
7-99370493-T-A CYP3A4 c.219-181A>T - IntronicSNV - 3/12
7-87144816-G-C ABCB1 c.3085-72C>G - IntronicSNV - 25/28
10-101611294-G-A ABCC2 c.4544G>A p.Cys1515Tyr Missense 32/32 -
7-87230193-A-G ABCB1 c.-129T>C - 5_prime_UTR_variant 2/29 -
19-41508020-C-A CYP2B6 c.172-1886C>A - IntronicSNV - 1/8
7-87151658-C-T ABCB1 c.2686-1466G>A - IntronicSNV - 22/28
7-99262835-C-T CYP3A5 c.624G>A p.Lys208Lys Synonymous 7/13 -