PMID: 28438747

Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

BMJ (Clinical research ed.)
M Benn, BG Nordestgaard, R Frikke-Schmidt, A Tybjærg-Hansen
2017-04-24

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
5-74648496-G-T HMGCR c.1368+1069G>T - IntronicSNV - 11/19
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55518374-C-T PCSK9 c.709C>T p.Arg237Trp Missense 5/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -