PMID: 21741043

Genetic variability within the cholesterol lowering pathway and the effectiveness of statins in reducing the risk of MI.

Atherosclerosis
BJ Peters, H Pett, OH Klungel, BH Stricker, BM Psaty, NL Glazer, KL Wiggins, JC Bis, A de Boer, AH Maitland-van der Zee
2011-08

245 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-19819536-T-G LPL c.1323-90T>G - IntronicSNV - 8/9
8-19811417-C-T LPL c.542-214C>T - IntronicSNV - 4/9
16-57000284-G-A CETP c.234-3014G>A - IntronicSNV - 2/15
12-125323240-G-A SCARB1 c.127-20987C>T - IntronicSNV - 1/12
9-107684253-G-A ABCA1 c.-93+5963C>T - intron_variant - 1/49
20-44539492-G-C PLTP c.200+299C>G - IntronicSNV - 3/15
15-58741134-A-C LIPC c.88+16815A>C - IntronicSNV - 1/8
9-107598740-C-T ABCA1 c.1311+521G>A - IntronicSNV - 11/49
15-58842883-A-C LIPC c.1051+2112A>C - IntronicSNV - 6/8
15-58856033-T-C LIPC c.1388+111T>C - IntronicSNV - 8/8
2-21244000-G-T APOB c.2817-1223C>A - IntronicSNV - 18/28
7-94927924-C-T PON1 c.*332G>A - 3-UTRSNV 9/9 -
15-58739761-G-C LIPC c.88+15442G>C - IntronicSNV - 1/8
15-58836308-C-G LIPC c.574+1458C>G - IntronicSNV - 4/8
15-58829894-A-G LIPC c.89-638A>G - IntronicSNV - 1/8
12-125328375-G-A SCARB1 c.126+19766C>T - IntronicSNV - 1/12
12-57602815-C-T LRP1 c.12146-51C>T - IntronicSNV - 78/88
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
2-44043452-A-T ABCG5 c.1650-1724T>A - IntronicSNV - 11/12
9-107666513-T-G ABCA1 c.1-553A>C - IntronicSNV - 1/49
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
8-19800005-A-G LPL c.88+2966A>G - IntronicSNV - 1/9
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
7-94949663-A-G PON1 c.75-1958T>C - IntronicSNV - 1/8
20-44530838-G-C PLTP c.1175+68C>G - IntronicSNV - 12/15
20-44530838-G-T PLTP c.1175+68C>A - IntronicSNV - 12/15
7-94948841-C-T PON1 c.75-1136G>A - IntronicSNV - 1/8
12-57539082-C-T LRP1 c.650C>T p.Ala217Val Missense 6/89 -
16-56999328-C-T CETP c.233+2292C>T - IntronicSNV - 2/15
9-107680458-C-T ABCA1 c.-93+9758G>A - intron_variant - 1/49
9-107680458-C-G ABCA1 c.-93+9758G>C - intron_variant - 1/49
1-179320665-A-G SOAT1 c.1596+68A>G - IntronicSNV - 15/15
7-94949329-A-G PON1 c.75-1624T>C - IntronicSNV - 1/8
7-94927677-A-C PON1 c.*579T>G - 3-UTRSNV 9/9 -
19-11233941-A-G LDLR c.2232A>G p.Arg744Arg Synonymous 15/18 -
12-57602815-C-A LRP1 c.12146-51C>A - IntronicSNV - 78/88
12-125322995-G-C SCARB1 c.127-20742C>G - IntronicSNV - 1/12
9-107604197-G-T ABCA1 c.814-1397C>A - IntronicSNV - 8/49
9-107687033-C-G ABCA1 c.-93+3183G>C - intron_variant - 1/49
9-107687033-C-T ABCA1 c.-93+3183G>A - intron_variant - 1/49
12-125339228-A-T SCARB1 c.126+8913T>A - IntronicSNV - 1/12
9-107645080-C-T ABCA1 c.421+240G>A - IntronicSNV - 5/49
12-125339228-A-G SCARB1 c.126+8913T>C - IntronicSNV - 1/12
12-125339228-A-C SCARB1 c.126+8913T>G - IntronicSNV - 1/12
9-107684253-G-T ABCA1 c.-93+5963C>A - intron_variant - 1/49
2-44101827-G-A ABCG8 c.1488+205G>A - IntronicSNV - 10/12
9-107668064-G-C ABCA1 c.1-2104C>G - IntronicSNV - 1/49
15-58842883-A-G LIPC c.1051+2112A>G - IntronicSNV - 6/8
15-58724792-T-A LIPC c.88+473T>A - IntronicSNV - 1/8
2-44058067-A-G ABCG5 c.501+841T>C - IntronicSNV - 4/12
2-44066174-T-A ABCG8 c.1-19T>A - 5-UTRSNV 1/13 -
15-58812199-C-T LIPC c.89-18333C>T - IntronicSNV - 1/8
15-58834741-G-A LIPC c.465G>A p.Val155Val Synonymous 4/9 -
15-58834741-G-T LIPC c.465G>T p.Val155Val Synonymous 4/9 -
9-107551180-C-T ABCA1 c.5928-332G>A - IntronicSNV - 44/49
3-12450354-G-A PPARG c.735+2774G>A - IntronicSNV - 5/6
3-12450354-G-T PPARG c.735+2774G>T - IntronicSNV - 5/6
7-94936692-C-T PON1 c.698+631G>A - IntronicSNV - 6/8
15-58741384-C-G LIPC c.88+17065C>G - IntronicSNV - 1/8
20-44538427-T-C PLTP c.330-117A>G - IntronicSNV - 4/15
15-58780013-G-A LIPC c.89-50519G>A - IntronicSNV - 1/8
15-58829215-A-T LIPC c.89-1317A>T - IntronicSNV - 1/8
15-58796245-C-G LIPC c.89-34287C>G - IntronicSNV - 1/8
2-44096336-T-A ABCG8 c.965-2779T>A - IntronicSNV - 6/12
9-107551538-C-T ABCA1 c.5928-690G>A - IntronicSNV - 44/49
7-94942765-A-C PON1 c.370+1869T>G - IntronicSNV - 4/8
12-125314921-A-G SCARB1 c.127-12668T>C - IntronicSNV - 1/12
20-44532255-A-G PLTP c.943-1012T>C - IntronicSNV - 10/15
15-58838010-A-G LIPC c.644A>G p.Asn215Ser Missense 5/9 -
15-58800766-T-C LIPC c.89-29766T>C - IntronicSNV - 1/8
1-179319580-T-C SOAT1 c.1450+14T>C - IntronicSNV - 14/15
15-58771084-A-T LIPC c.88+46765A>T - IntronicSNV - 1/8
8-59405940-C-T CYP7A1 c.1040-853G>A - IntronicSNV - 4/5
8-59411971-G-A CYP7A1 c.80+607C>T - IntronicSNV - 1/5
7-94927677-A-G PON1 c.*579T>C - 3-UTRSNV 9/9 -
2-44082669-T-A ABCG8 c.964+2662T>A - IntronicSNV - 6/12
8-19799641-G-A LPL c.88+2602G>A - IntronicSNV - 1/9
19-11238473-A-C LDLR c.2312-211A>C - IntronicSNV - 15/17
9-107588033-C-T ABCA1 c.2473G>A p.Val825Ile Missense 17/50 -
7-94950177-C-T PON1 c.75-2472G>A - IntronicSNV - 1/8
7-94950177-C-G PON1 c.75-2472G>C - IntronicSNV - 1/8
9-107546901-A-G ABCA1 c.6646-165T>C - IntronicSNV - 49/49
12-57602815-C-G LRP1 c.12146-51C>G - IntronicSNV - 78/88
15-58760975-C-A LIPC c.88+36656C>A - IntronicSNV - 1/8
15-58737661-C-A LIPC c.88+13342C>A - IntronicSNV - 1/8
3-12334416-T-C PPARG c.-3+4897T>C - intron_variant - 1/6
19-11238473-A-T LDLR c.2312-211A>T - IntronicSNV - 15/17
9-107635869-C-G ABCA1 c.421+9451G>C - IntronicSNV - 5/49
11-116691675-T-A APOA4 c.1099A>T p.Thr367Ser Missense 3/3 -
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
2-44101430-T-A ABCG8 c.1412-116T>A - IntronicSNV - 9/12
2-44101430-T-C ABCG8 c.1412-116T>C - IntronicSNV - 9/12
2-44101430-T-G ABCG8 c.1412-116T>G - IntronicSNV - 9/12
12-125322995-G-T SCARB1 c.127-20742C>A - IntronicSNV - 1/12
9-107678797-C-T ABCA1 c.-93+11419G>A - intron_variant - 1/49
7-94930391-A-C PON1 c.909+1126T>G - IntronicSNV - 8/8
15-58749155-T-C LIPC c.88+24836T>C - IntronicSNV - 1/8
8-19815023-A-T LPL c.1018+1429A>T - IntronicSNV - 6/9
11-116691675-T-C APOA4 c.1099A>G p.Thr367Ala Missense 3/3 -
2-44044255-A-G ABCG5 c.1650-2527T>C - IntronicSNV - 11/12
19-11238473-A-G LDLR c.2312-211A>G - IntronicSNV - 15/17
3-12443844-A-G PPARG c.536-3537A>G - IntronicSNV - 4/6
3-12449528-G-T PPARG c.735+1948G>T - IntronicSNV - 5/6
9-107581749-A-C ABCA1 c.3241+118T>G - IntronicSNV - 22/49
12-125317582-C-T SCARB1 c.127-15329G>A - IntronicSNV - 1/12
9-107581749-A-T ABCA1 c.3241+118T>A - IntronicSNV - 22/49
8-59403576-C-T CYP7A1 c.*458G>A - 3-UTRSNV 6/6 -
2-21231524-G-T APOB c.8216C>A p.Pro2739Gln Missense 26/29 -
12-57592557-C-T LRP1 c.9676+104C>T - IntronicSNV - 60/88
12-57592557-C-G LRP1 c.9676+104C>G - IntronicSNV - 60/88
16-67977382-T-C LCAT c.155-267A>G - IntronicSNV - 1/5
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
8-19815189-C-T LPL c.1019-1582C>T - IntronicSNV - 6/9
2-44096336-T-C ABCG8 c.965-2779T>C - IntronicSNV - 6/12
2-44092959-G-T ABCG8 c.965-6156G>T - IntronicSNV - 6/12
3-12356605-T-C PPARG c.-3+27086T>C - intron_variant - 1/6
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
16-57009388-G-T CETP c.981+325G>T - IntronicSNV - 10/15
16-56998572-G-C CETP c.233+1536G>C - IntronicSNV - 2/15
1-179312102-T-C SOAT1 c.941+24T>C - IntronicSNV - 9/15
16-57009388-G-A CETP c.981+325G>A - IntronicSNV - 10/15
12-125317391-C-G SCARB1 c.127-15138G>C - IntronicSNV - 1/12
4-100504985-G-A MTTP c.393+311G>A - IntronicSNV - 4/18
12-125299830-C-T SCARB1 c.285-170G>A - IntronicSNV - 2/12
15-58838575-G-A LIPC c.808+401G>A - IntronicSNV - 5/8
2-44062896-G-T ABCG5 c.265+2077C>A - IntronicSNV - 2/12
3-12384542-G-A PPARG c.1-36663G>A - IntronicSNV - 1/6
12-125283766-C-T SCARB1 c.1128+904G>A - IntronicSNV - 8/12
7-94949928-C-T PON1 c.75-2223G>A - IntronicSNV - 1/8
12-57530670-T-C LRP1 c.68-1572T>C - IntronicSNV - 1/88
19-11229218-A-G LDLR c.1845+1544A>G - IntronicSNV - 12/17
17-17715101-G-A SREBF1 c.*835C>T - 3-UTRSNV 19/19 -
15-58840039-A-G LIPC c.809-490A>G - IntronicSNV - 5/8
15-58797499-C-T LIPC c.89-33033C>T - IntronicSNV - 1/8
9-107683122-T-G ABCA1 c.-93+7094A>C - intron_variant - 1/49
19-11242658-T-C LDLR c.*666T>C - 3-UTRSNV 18/18 -
19-11242658-T-A LDLR c.*666T>A - 3-UTRSNV 18/18 -
2-44099433-C-A ABCG8 c.1199C>A p.Thr400Lys Missense 8/13 -
3-12396588-G-T PPARG c.1-24617G>T - IntronicSNV - 1/6
3-12396588-G-A PPARG c.1-24617G>A - IntronicSNV - 1/6
15-58838010-A-C LIPC c.644A>C p.Asn215Thr Missense 5/9 -
19-11238807-C-T LDLR c.2389+46C>T - IntronicSNV - 16/17
19-11238807-C-G LDLR c.2389+46C>G - IntronicSNV - 16/17
15-58791354-T-C LIPC c.89-39178T>C - IntronicSNV - 1/8
15-58798554-A-G LIPC c.89-31978A>G - IntronicSNV - 1/8
15-58798554-A-T LIPC c.89-31978A>T - IntronicSNV - 1/8
9-107683122-T-A ABCA1 c.-93+7094A>T - intron_variant - 1/49
9-107550639-A-G ABCA1 c.6069+68T>C - IntronicSNV - 45/49
1-179278005-A-G SOAT1 c.118+6068A>G - IntronicSNV - 2/15
1-179278005-A-C SOAT1 c.118+6068A>C - IntronicSNV - 2/15
19-45452694-G-T APOC2 c.*188G>T - 3-UTRSNV 4/4 -
12-57534470-G-A LRP1 c.191-687G>A - IntronicSNV - 2/88
15-58767754-C-G LIPC c.88+43435C>G - IntronicSNV - 1/8
1-179272116-T-A SOAT1 c.118+179T>A - IntronicSNV - 2/15
12-57534470-G-C LRP1 c.191-687G>C - IntronicSNV - 2/88
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
2-44102235-T-C ABCG8 c.1489-50T>C - IntronicSNV - 10/12
9-107664961-A-G ABCA1 c.66+934T>C - IntronicSNV - 2/49
22-46633782-G-A PPARA c.*2505G>A - 3-UTRSNV 8/8 -
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
7-94948841-C-A PON1 c.75-1136G>T - IntronicSNV - 1/8
12-57540751-C-G LRP1 c.841+1478C>G - IntronicSNV - 6/88
1-179299714-G-C SOAT1 c.178-4927G>C - IntronicSNV - 3/15
8-59411971-G-T CYP7A1 c.80+607C>A - IntronicSNV - 1/5
8-126030809-T-C SQLE c.1348-64T>C - IntronicSNV - 8/10
1-179299714-G-T SOAT1 c.178-4927G>T - IntronicSNV - 3/15
15-58828584-A-T LIPC c.89-1948A>T - IntronicSNV - 1/8
1-179311602-T-G SOAT1 c.859+275T>G - IntronicSNV - 8/15
2-44049120-G-A ABCG5 c.1463+816C>T - IntronicSNV - 10/12
15-58749155-T-A LIPC c.88+24836T>A - IntronicSNV - 1/8
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
1-55509213-G-C PCSK9 c.208-303G>C - IntronicSNV - 1/11
1-55509213-G-A PCSK9 c.208-303G>A - IntronicSNV - 1/11
8-19813676-C-A LPL c.1018+82C>A - IntronicSNV - 6/9
11-116660813-G-A APOA5 c.*31C>T - 3-UTRSNV 4/4 -
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
2-44067819-T-G ABCG8 c.63+1564T>G - IntronicSNV - 1/12
12-125312612-G-C SCARB1 c.127-10359C>G - IntronicSNV - 1/12
12-125332955-T-C SCARB1 c.126+15186A>G - IntronicSNV - 1/12
12-125332955-T-A SCARB1 c.126+15186A>T - IntronicSNV - 1/12
3-12470239-A-C PPARG c.1187-5158A>C - IntronicSNV - 6/6
4-100503761-C-T MTTP c.249+512C>T - IntronicSNV - 3/18
12-57543572-C-G LRP1 c.841+4299C>G - IntronicSNV - 6/88
15-58746830-T-C LIPC c.88+22511T>C - IntronicSNV - 1/8
12-57543572-C-T LRP1 c.841+4299C>T - IntronicSNV - 6/88
2-44092959-G-C ABCG8 c.965-6156G>C - IntronicSNV - 6/12
15-58839272-T-G LIPC c.808+1098T>G - IntronicSNV - 5/8
15-58741384-C-T LIPC c.88+17065C>T - IntronicSNV - 1/8
9-107668886-A-G ABCA1 c.1-2926T>C - IntronicSNV - 1/49
9-107668886-A-C ABCA1 c.1-2926T>G - IntronicSNV - 1/49
9-107668886-A-T ABCA1 c.1-2926T>A - IntronicSNV - 1/49
9-107686405-C-T ABCA1 c.-93+3811G>A - intron_variant - 1/49
1-179299896-T-C SOAT1 c.178-4745T>C - IntronicSNV - 3/15
9-107677211-G-C ABCA1 c.1-11251C>G - IntronicSNV - 1/49
8-19799641-G-T LPL c.88+2602G>T - IntronicSNV - 1/9
12-125317391-C-A SCARB1 c.127-15138G>T - IntronicSNV - 1/12
1-55514182-T-C PCSK9 c.523+1863T>C - IntronicSNV - 3/11
1-55524842-G-A PCSK9 c.1504-317G>A - IntronicSNV - 9/11
9-107629104-T-C ABCA1 c.422-5023A>G - IntronicSNV - 5/49
15-58752890-C-A LIPC c.88+28571C>A - IntronicSNV - 1/8
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
15-58767754-C-A LIPC c.88+43435C>A - IntronicSNV - 1/8
12-125265973-G-C SCARB1 c.*1256C>G - IntronicSNV - 12/12
12-125265973-G-A SCARB1 c.*1256C>T - IntronicSNV - 12/12
2-44099433-C-T ABCG8 c.1199C>T p.Thr400Met Missense 8/13 -
7-94946255-G-T PON1 c.146-154C>A - IntronicSNV - 2/8
1-179275579-T-C SOAT1 c.118+3642T>C - IntronicSNV - 2/15
15-58811869-A-G LIPC c.89-18663A>G - IntronicSNV - 1/8
12-125265973-G-T SCARB1 c.*1256C>A - IntronicSNV - 12/12
12-57532982-T-C LRP1 c.190+618T>C - IntronicSNV - 2/88
9-107571241-C-T ABCA1 c.4274+506G>A - IntronicSNV - 30/49
15-58841736-C-G LIPC c.1051+965C>G - IntronicSNV - 6/8
16-57015545-C-A CETP c.1215-14C>A - IntronicSNV - 12/15
16-57015545-C-T CETP c.1215-14C>T - IntronicSNV - 12/15
2-44050687-C-T ABCG5 c.1324+365G>A - IntronicSNV - 9/12
2-44050687-C-G ABCG5 c.1324+365G>C - IntronicSNV - 9/12
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
4-100510903-A-G MTTP c.497A>G p.Asn166Ser Missense 5/19 -
12-125342920-G-A SCARB1 c.126+5221C>T - IntronicSNV - 1/12
4-100525515-T-G MTTP c.1345-2390T>G - IntronicSNV - 11/18
15-58801234-G-A LIPC c.89-29298G>A - IntronicSNV - 1/8
2-44066174-T-G ABCG8 c.1-19T>G - 5-UTRSNV 1/13 -
15-58836308-C-T LIPC c.574+1458C>T - IntronicSNV - 4/8
1-179315357-C-A SOAT1 c.1117+1146C>A - IntronicSNV - 11/15
12-125319771-G-A SCARB1 c.127-17518C>T - IntronicSNV - 1/12
12-125319771-G-T SCARB1 c.127-17518C>A - IntronicSNV - 1/12
1-179323919-A-G SOAT1 c.*1143A>G - 3-UTRSNV 16/16 -
1-179323919-A-T SOAT1 c.*1143A>T - 3-UTRSNV 16/16 -
8-19818976-A-C LPL c.1322+382A>C - IntronicSNV - 8/9
7-94952692-C-A PON1 c.74+1022G>T - IntronicSNV - 1/8
15-58730498-C-G LIPC c.88+6179C>G - IntronicSNV - 1/8
15-58730498-C-T LIPC c.88+6179C>T - IntronicSNV - 1/8
9-107545903-G-A ABCA1 c.*693C>T - 3-UTRSNV 50/50 -
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
9-107635869-C-T ABCA1 c.421+9451G>A - IntronicSNV - 5/49
16-57000284-G-C CETP c.234-3014G>C - IntronicSNV - 2/15
1-179311602-T-C SOAT1 c.859+275T>C - IntronicSNV - 8/15
12-57593894-A-G LRP1 c.10014+86A>G - IntronicSNV - 62/88
9-107684318-A-C ABCA1 c.-93+5898T>G - intron_variant - 1/49
17-17724789-G-A SREBF1 c.92-954C>T - IntronicSNV - 1/18
15-58778412-G-C LIPC c.89-52120G>C - IntronicSNV - 1/8
12-125318772-C-T SCARB1 c.127-16519G>A - IntronicSNV - 1/12
9-107672498-G-A ABCA1 c.1-6538C>T - IntronicSNV - 1/49
15-58741134-A-T LIPC c.88+16815A>T - IntronicSNV - 1/8