Annotation Detail
Information
- Associated Genes
- MEPE
- Associated Variants
-
PCSK9 p.Arg46Leu (p.R46L)
(
ENST00000302118.5,
ENST00000713786.1,
ENST00000710286.1 )
PCSK9 p.Tyr142Ter (p.Y142*) ( ENST00000302118.5, ENST00000713786.1, ENST00000710286.1, ENST00000673903.1 )
PCSK9 p.Cys679Ter (p.C679*) ( ENST00000302118.5, ENST00000713786.1, ENST00000710286.1, ENST00000673903.1 )
PCSK9 p.Cys679= (p.C679=) ( ENST00000302118.5, ENST00000713786.1, ENST00000673903.1, ENST00000710286.1 )
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Tyr142Ter (p.Y142*) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Cys679Ter (p.C679*) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Cys679= (p.C679=) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- atherosclerosis
- Source Database
- DisGeNET
- Description
- The Atherosclerosis Risk in Communities (ARIC) Study assessed risk factors and PCSK9 variants Y142X and C679X (relevant to blacks) and R46L (relevant to whites) in a cohort of 45-64-year olds in 1987-1989 (n=13,634).
- Pubmed
- 18436227
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2009
Drugs