Annotation Detail

Information
Associated Genes
PCSK9
Associated Variants
PCSK9 p.Gly670Glu (p.G670E) ( ENST00000673903.1, ENST00000710286.1, ENST00000713786.1, ENST00000302118.5 )
PCSK9 p.Gly670Glu (p.G670E) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
Associated Disease
coronary artery disease
Source Database
DisGeNET
Description
The E670G polymorphism of the PCSK9 gene is mainly associated with a increased risk and severity of CAD and IS in Tunisian cohort.
Pubmed
24599757
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.13035839840077
Year of publication
2014
Drugs