PMID: 27189168

The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

EMBO molecular medicine
Kessler, Thorsten T, Vilne, Baiba B, Schunkert, Heribert H
2016-07

60 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
4-156638347-G-A GUCY1A1 c.1609G>A p.G537R Missense 8/10 -
7-44555727-A-T NPC1L1 c.3589T>A p.W1197R Missense 17/19 -
7-44555727-A-G NPC1L1 c.3589T>C p.W1197R Missense 17/19 -
4-156638347-G-C GUCY1A1 c.1609G>C p.G537R Missense 8/10 -
1-222823529-A-C MIA3 c.3632-105A>C - IntronicSNV - 8/27
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
15-91416550-C-A FURIN c.1-2421C>A - IntronicSNV - 1/15
15-91416550-C-G FURIN c.1-2421C>G - IntronicSNV - 1/15
6-39174922-T-C KCNK5 c.187-11159A>G - IntronicSNV - 1/4
13-28973621-G-A FLT1 c.1552-2416C>T - IntronicSNV - 11/29
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
1-56962821-A-G PLPP3 c.811-473T>C - IntronicSNV - 5/5
6-161143608-T-C PLG c.1256+9T>C - IntronicSNV - 10/18
6-161143608-T-G PLG c.1256+9T>G - IntronicSNV - 10/18
6-12927544-C-G PHACTR1 c.251-126053C>G - IntronicSNV - 4/14
15-67455630-C-T SMAD3 c.207-1603C>T - IntronicSNV - 1/8
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
10-30335122-T-C KIAA1462 c.281+1339A>G - IntronicSNV - 2/3
5-131667353-A-G SLC22A4 c.952-96A>G - IntronicSNV - 5/9
4-156635309-G-A GUCY1A3 c.1572+574G>A - IntronicSNV - 7/9
1-154422067-T-C IL6R c.997-320T>C - IntronicSNV - 7/9
1-222823529-A-G MIA3 c.3632-105A>G - IntronicSNV - 8/27
1-222823529-A-T MIA3 c.3632-105A>T - IntronicSNV - 8/27
13-110960712-A-G COL4A2 c.99+242A>G - IntronicSNV - 3/47
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
10-104719096-G-A CNNM2 c.1621+39238G>A - IntronicSNV - 1/7
7-150690176-C-T NOS3 c.1-716C>T - IntronicSNV - 1/26
12-121416650-A-C HNF1A c.79A>C p.I27L Missense 1/10 -
15-79089111-A-G ADAMTS7 c.640T>C p.S214P Missense 4/24 -
20-33764554-A-G PROCR c.655A>G p.S219G Missense 4/4 -
7-129663496-C-T ZC3HC1 c.1088G>A p.R363H Missense 8/10 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55512222-C-A PCSK9 c.426C>A p.Y142* Nonsense 3/12 -
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
17-2126504-G-C SMG6 c.2869+13282C>G - IntronicSNV - 10/18
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G p.F216L Missense 4/12 -
8-19805708-G-A LPL c.106G>A p.D36N Missense 2/10 -
10-88635779-C-A BMPR1A c.4C>A p.P2T Missense 3/13 -
9-113169775-T-C SVEP1 c.8105A>G p.D2702G Missense 38/48 -
2-203765756-T-C WDR12 c.223A>G p.I75V Missense 3/13 -
11-9751196-G-C SWAP70 c.898+198G>C - IntronicSNV - 6/11
4-57838583-G-T NOA1 c.1515+731C>A - IntronicSNV - 3/6
20-33565755-G-A MYH7B c.73G>A p.A25T Missense 5/45 -
11-9751196-G-A SWAP70 c.898+198G>A - IntronicSNV - 6/11
17-59013488-T-A BCAS3 c.1088-11092T>A - IntronicSNV - 13/23
17-59013488-T-C BCAS3 c.1088-11092T>C - IntronicSNV - 13/23
12-118265441-T-G KSR2 c.472+27792A>C - intron_variant - 3/19
1-201869257-G-A LMOD1 c.884C>T p.T295M Missense 2/3 -
17-17896205-C-T DRC3 c.571C>T p.R191W Missense 6/14 -