PMID: 25682028

GWAS-identified loci for coronary heart disease are associated with intima-media thickness and plaque presence at the carotid artery bulb.

Atherosclerosis
M den Hoed, RJ Strawbridge, P Almgren, S Gustafsson, T Axelsson, G Engström, U de Faire, B Hedblad, SE Humphries, CM Lindgren, AP Morris, G Östling, AC Syvänen, E Tremoli, A Hamsten, E Ingelsson, O Melander, L Lind
2015-04

43 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-2119101-C-T SMG6 c.145+20685G>A - IntronicSNV - 3/11
17-2119101-C-G SMG6 c.145+20685G>C - IntronicSNV - 3/11
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
6-39174525-C-T KCNK5 c.187-10762G>A - IntronicSNV - 1/4
8-19811967-C-T LPL c.775+103C>T - IntronicSNV - 5/9
6-12901441-C-A PHACTR1 c.250+151419C>A - IntronicSNV - 4/14
6-12901441-C-G PHACTR1 c.250+151419C>G - IntronicSNV - 4/14
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
13-28973703-C-T FLT1 c.1552-2498G>A - IntronicSNV - 11/29
7-107050221-T-C COG5 c.762+2726A>G - IntronicSNV - 7/20
1-56965664-C-T PLPP3 c.811-3316G>A - IntronicSNV - 5/5
17-2117945-A-G SMG6 c.145+21841T>C - IntronicSNV - 3/11
2-203753072-T-C WDR12 c.742-3814A>G - IntronicSNV - 8/12
6-34898455-C-T ANKS1A c.198-36561C>T - IntronicSNV - 1/23
6-39174922-T-C KCNK5 c.187-11159A>G - IntronicSNV - 1/4
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
13-111049623-T-C COL4A2 c.181-27458T>C - IntronicSNV - 4/47
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
5-131667353-A-G SLC22A4 c.952-96A>G - IntronicSNV - 5/9
1-222762709-T-G TAF1A c.-3+360A>C - intron_variant - 1/10
2-85767735-C-T MAT2A c.92-471C>T - IntronicSNV - 1/8
6-161143608-T-G PLG c.1256+9T>G - IntronicSNV - 10/18
6-161143608-T-C PLG c.1256+9T>C - IntronicSNV - 10/18
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
3-138122122-C-T MRAS c.*1011C>T - 3-UTRSNV 6/6 -
10-104719096-G-A CNNM2 c.1621+39238G>A - IntronicSNV - 1/7
13-28973621-G-A FLT1 c.1552-2416C>T - IntronicSNV - 11/29
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8
14-100133250-C-T HHIPL1 c.1649-1309C>T - IntronicSNV - 6/8
10-90989109-T-A LIPA c.230-954A>T - IntronicSNV - 3/9
3-138122122-C-A MRAS c.*1011C>A - 3-UTRSNV 6/6 -
10-90989109-T-C LIPA c.230-954A>G - IntronicSNV - 3/9
6-160863532-T-C SLC22A3 c.1289-261T>C - IntronicSNV - 7/10
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
7-107091849-C-A COG5 c.632-38772G>T - IntronicSNV - 6/20
17-47005193-A-G UBE2Z c.*697A>G - 3-UTRSNV 7/7 -
5-131723065-C-T SLC22A5 c.951+222C>T - IntronicSNV - 5/9
1-154422067-T-C IL6R c.997-320T>C - IntronicSNV - 7/9
6-35008247-G-A ANKS1A c.2011-13629G>A - IntronicSNV - 11/23
19-11166827-G-A SMARCA4 c.4425-2104G>A - IntronicSNV - 30/34
1-56962821-A-G PLPP3 c.811-473T>C - IntronicSNV - 5/5