PMID: 28456421

Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration.

Ophthalmology
S Burgess, G Davey Smith
2017-08

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
6-160575985-C-T SLC22A1 c.1498+43C>T - IntronicSNV - 9/10
11-116639104-A-G BUD13 c.237+1741T>C - IntronicSNV - 2/9
19-45382034-A-G NECTIN2 c.*157A>G - 3-UTRSNV 6/6 -
15-58731153-G-C LIPC c.88+6834G>C - IntronicSNV - 1/8
12-112007756-C-T ATXN2 c.252-14033G>A - intron_variant - 1/24
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
15-58731153-G-T LIPC c.88+6834G>T - IntronicSNV - 1/8
15-58731153-G-A LIPC c.88+6834G>A - IntronicSNV - 1/8
20-44585420-A-G ZNF335 c.2442+805T>C - IntronicSNV - 17/27
11-116654435-C-T ZPR1 c.892-100G>A - IntronicSNV - 9/13
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
1-55528629-G-A PCSK9 c.1864-413G>A - IntronicSNV - 11/11
11-116639104-A-T BUD13 c.237+1741T>A - IntronicSNV - 2/9