PMID: 29997226

Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke.

Circulation. Genomic and precision medicine
AS Rao, D Lindholm, MA Rivas, JW Knowles, SB Montgomery, E Ingelsson

6 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
7-44579808-G-A NPC1L1 c.188C>T p.Ala63Val Missense 2/20 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -