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
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- Caucasian carriers of the T allele at R46L in the proprotein convertase subtilisin/kexin type 9 (PCSK9) locus have been reported to have 15% lower low-density lipoprotein (LDL) cholesterol (C) levels and 47% lower coronary heart disease (CHD) risk.
- Pubmed
- 18262190
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0251457431466092
- Year of publication
- 2008
Drugs