Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 MUTATION
PCSK9 MUTATION
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000713786.1, ENST00000710286.1 )
PCSK9 p.Val474Ile (p.V474I) ( ENST00000713786.1, ENST00000673903.1, ENST00000710286.1, ENST00000302118.5 )
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Val474Ile (p.V474I) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia
- Source Database
- DisGeNET
- Description
- No association tests were performed for R46L variant because of its very low frequency, whereas the I474V polymorphism and PCSK9 haplotypes were not related to hypercholesterolemia or variability on plasma lipids in both NL and HC groups (P > .05).
- Pubmed
- 24793346
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162405859306164
- Year of publication
- 2014
Drugs