PMID: 21860704

Implications of discoveries from genome-wide association studies in current cardiovascular practice.

World journal of cardiology
P Jeemon, K Pettigrew, C Sainsbury, D Prabhakaran, S Padmanabhan
2011-07-26

173 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-160863532-T-C SLC22A3 c.1289-261T>C - IntronicSNV - 7/10
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
1-93009438-C-G EVI5 c.2118+19761G>C - IntronicSNV - 17/17
1-93009438-C-A EVI5 c.2118+19761G>T - IntronicSNV - 17/17
12-57707295-C-T R3HDM2 c.1-3084G>A - IntergenicSNV - 1/23
7-44579180-G-C NPC1L1 c.816C>G p.Leu272Leu Synonymous 2/20 -
7-44579180-G-A NPC1L1 c.816C>T p.Leu272Leu Synonymous 2/20 -
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
20-39672618-T-A TOP1 c.58+14523T>A - IntronicSNV - 2/20
20-43042364-C-T HNF4A c.416C>T p.Thr139Ile Missense 4/10 -
6-160969738-C-G LPA c.4974-47G>C - IntronicSNV - 30/38
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
8-10683929-G-C PINX1 c.302-175C>G - IntronicSNV - 4/6
8-10683929-G-T PINX1 c.302-175C>A - IntronicSNV - 4/6
10-52256902-C-T SGMS1 c.-498+22689G>A - intron_variant - 3/10
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
11-16902268-C-A PLEKHA7 c.222-9539G>T - IntronicSNV - 3/22
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
12-110000193-C-T MMAB c.349-536G>A - IntronicSNV - 4/8
22-38546033-T-C PLA2G6 c.210-4373A>G - IntronicSNV - 2/15
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
12-110000193-C-G MMAB c.349-536G>C - IntronicSNV - 4/8
10-104846178-T-C CNNM2 c.*9241T>C - IntergenicSNV 8/8 -
12-124475156-A-G ZNF664 c.-661+2471A>G - intron_variant - 3/4
19-19721722-G-A PBX4 c.119+7598C>T - IntronicSNV - 1/7
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
11-16902268-C-T PLEKHA7 c.222-9539G>A - IntronicSNV - 3/22
22-38546033-T-A PLA2G6 c.210-4373A>T - IntronicSNV - 2/15
11-116654159-A-G ZPR1 c.981+87T>C - IntronicSNV - 10/13
1-11862778-A-G MTHFR c.236+160T>C - IntronicSNV - 2/11
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
8-116648565-A-C TRPS1 c.1-12701T>G - IntronicSNV - 1/6
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
1-222823529-A-C MIA3 c.3632-105A>C - IntronicSNV - 8/27
12-90060586-G-A ATP2B1 c.1-10923C>T - IntergenicSNV - 1/20
12-90008959-A-G ATP2B1 c.2067+1620T>C - IntronicSNV - 12/20
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
8-19820405-G-A LPL c.1427+675G>A - IntronicSNV - 9/9
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
3-138122122-C-A MRAS c.*1011C>A - 3-UTRSNV 6/6 -
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
19-49206417-A-G FUT2 c.204A>G p.Ala68Ala Synonymous 2/2 -
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
7-72989390-A-G TBL2 c.131-547T>C - IntronicSNV - 1/6
14-24883887-G-A NYNRIN c.2932G>A p.Ala978Thr Missense 9/9 -
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
6-160962503-T-C LPA c.5520-290A>G - IntronicSNV - 34/38
2-169041386-T-G STK39 c.209-2786A>C - IntronicSNV - 1/17
15-58742731-T-G LIPC c.88+18412T>G - IntronicSNV - 1/8
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
6-12927544-C-G PHACTR1 c.251-126053C>G - IntronicSNV - 4/14
16-72108093-G-A HPR c.92-90G>A - IntronicSNV - 2/4
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
10-18708798-A-T CACNB2 c.168+17826A>T - IntronicSNV - 2/12
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
15-75077367-C-T CSK c.-66+2306C>T - intron_variant - 1/12
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
15-75077367-C-A CSK c.-66+2306C>A - intron_variant - 1/12
16-56905432-T-C SLC12A3 c.852+784T>C - IntronicSNV - 6/25
1-63049819-G-A DOCK7 c.1801-894C>T - IntronicSNV - 15/48
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
11-116640237-A-G BUD13 c.237+608T>C - IntronicSNV - 2/9
12-125265689-C-T SCARB1 c.*1540G>A - IntronicSNV 13/13 -
7-72904810-C-T BAZ1B c.694-1089G>A - IntronicSNV - 5/19
8-11045161-G-A XKR6 c.764+12924C>T - IntronicSNV - 1/2
8-11045161-G-T XKR6 c.764+12924C>A - IntronicSNV - 1/2
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
1-222823529-A-G MIA3 c.3632-105A>G - IntronicSNV - 8/27
5-74656539-T-G HMGCR c.*372T>G - 3-UTRSNV 20/20 -
8-19816934-T-C LPL c.1139+43T>C - IntronicSNV - 7/9
1-220973563-C-T MARC1 c.753+2207C>T - IntronicSNV - 4/6
8-145043543-A-G PLEC c.193+5802T>C - IntronicSNV - 2/32
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
1-222823529-A-T MIA3 c.3632-105A>T - IntronicSNV - 8/27
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
16-56785390-A-G NUP93 c.179+3052A>G - IntronicSNV - 2/21
16-67928042-G-A PSKH1 c.-71+768G>A - intron_variant - 1/2
12-124460167-G-T ZNF664 c.-757+1600G>T - intron_variant - 2/4
11-18632984-T-C SPTY2D1 c.1964+40A>G - IntronicSNV - 5/5
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
7-72856269-G-A BAZ1B c.*257C>T - IntronicSNV - 19/19
11-126243952-G-A ST3GAL4 c.-61+17755G>A - intron_variant - 1/10
11-116728630-G-C SIK3 c.3407C>G - missense_variant 20/24 -
1-40028180-A-G PABPC4 c.1669-92T>C - IntronicSNV - 12/15
9-107684318-A-C ABCA1 c.-93+5898T>G - intron_variant - 1/49
19-19329924-C-A NCAN c.274C>A p.Pro92Thr Missense 3/15 -
17-66875294-C-G ABCA8 c.3919-1474G>C - IntronicSNV - 30/37
12-123796238-C-T SBNO1 c.3218-562G>A - IntronicSNV - 24/31
15-58731153-G-C LIPC c.88+6834G>C - IntronicSNV - 1/8
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
16-81534790-T-A CMIP c.18+5691T>A - IntronicSNV - 1/20
17-37813856-G-C STARD3 c.298-172G>C - IntronicSNV - 3/14
15-58731153-G-T LIPC c.88+6834G>T - IntronicSNV - 1/8
15-58731153-G-A LIPC c.88+6834G>A - IntronicSNV - 1/8
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
12-121435587-G-A HNF1A c.1501+119G>A - IntronicSNV - 7/9
12-121435587-G-T HNF1A c.1501+119G>T - IntronicSNV - 7/9
2-135837906-C-A RAB3GAP1 c.151-10662C>A - IntronicSNV - 3/23
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
8-19819439-A-G LPL c.1323-187A>G - IntronicSNV - 8/9
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
1-40028180-A-C PABPC4 c.1669-92T>G - IntronicSNV - 12/15
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
11-61597212-C-T FADS2 c.207+1143C>T - IntronicSNV - 1/11
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
10-113933886-A-G GPAM c.414-283T>C - IntronicSNV - 6/21
12-112007756-C-T ATXN2 c.252-14033G>A - intron_variant - 1/24
16-81534790-T-C CMIP c.18+5691T>C - IntronicSNV - 1/20
3-12628920-G-C RAF1 c.1417+170C>G - IntronicSNV - 13/16
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
12-90013089-T-G ATP2B1 c.1829+687A>C - IntronicSNV - 11/20
4-88030261-G-T AFF1 c.1512+794G>T - IntronicSNV - 10/19
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
3-138122122-C-T MRAS c.*1011C>T - 3-UTRSNV 6/6 -
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
11-116661826-T-C APOA5 c.162-43A>G - IntronicSNV - 3/3
17-43208121-A-T PLCD3 c.163+1494T>A - IntronicSNV - 1/15
11-46743247-T-C F2 c.316+857T>C - IntronicSNV - 4/13
3-41912651-G-T ULK4 c.1656+12715C>A - IntronicSNV - 17/36
3-41912651-G-A ULK4 c.1656+12715C>T - IntronicSNV - 17/36
10-113933886-A-T GPAM c.414-283T>A - IntronicSNV - 6/21
19-19746151-G-C GMIP c.1560+73C>G - IntronicSNV - 15/20
5-53298025-G-A ARL15 c.462+111007C>T - IntronicSNV - 4/4
19-19746151-G-T GMIP c.1560+73C>A - IntronicSNV - 15/20
11-116653296-C-T ZPR1 c.1093-336G>A - IntronicSNV - 11/13
11-116653296-C-G ZPR1 c.1093-336G>C - IntronicSNV - 11/13
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
6-116312893-A-T FRK c.466+12147T>A - IntronicSNV - 2/7
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
12-90013089-T-C ATP2B1 c.1829+687A>G - IntronicSNV - 11/20
6-32412435-G-A HLA-DRA c.*18G>A - 3_prime_UTR_variant 5/5 -
8-116599199-T-G TRPS1 c.2700+29A>C - IntronicSNV - 5/6
8-116599199-T-C TRPS1 c.2700+29A>G - IntronicSNV - 5/6
7-72129667-C-T TYW1B c.1506+30010G>A - intron_variant - 12/14
10-104594507-A-G CYP17A1 c.666+35T>C - IntronicSNV - 3/7
11-116728630-G-A SIK3 c.3407C>T - missense_variant 20/24 -
5-74656539-T-C HMGCR c.*372T>C - 3-UTRSNV 20/20 -
11-116728630-G-T SIK3 c.3407C>A - missense_variant 20/24 -
19-19329924-C-T NCAN c.274C>T p.Pro92Ser Missense 3/15 -
19-45447221-G-A APOC4 c.77-785G>A - IntronicSNV - 1/2
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
17-76403984-G-A PGS1 c.1402+3814G>A - IntronicSNV - 7/9
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13