PMID: 22403240

Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

Circulation. Cardiovascular genetics
CL Carty, P Buzková, M Fornage, N Franceschini, S Cole, G Heiss, LA Hindorff, BV Howard, S Mann, LW Martin, Y Zhang, TC Matise, R Prentice, AP Reiner, C Kooperberg
2012-04-01

22 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
19-11728802-A-G ZNF627 c.*98A>G - 3-UTRSNV 4/4 -
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
18-11987272-C-T IMPA2 c.96+5508C>T - IntronicSNV - 1/7
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
15-67458639-T-C SMAD3 c.533-478T>C - IntronicSNV - 3/8
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
20-36399580-G-T CTNNBL1 c.750+3134G>T - IntronicSNV - 7/15
10-100205107-G-T HPS1 c.-51C>A - 5_prime_UTR_variant 2/20 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49