Annotation Detail

Information
Associated Genes
PCSK9
Associated Variants
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000713786.1, ENST00000710286.1 )
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000710286.1, ENST00000713786.1 )
Associated Disease
Myocardial Ischemia
Source Database
DisGeNET
Description
PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses.
Pubmed
20579540
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2010
Drugs