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 Arteriosclerosis
- Source Database
- DisGeNET
- Description
- A common PCSK9 haplotype, encompassing the E670G coding single nucleotide polymorphism, is a novel genetic marker for plasma low-density lipoprotein cholesterol levels and severity of coronary atherosclerosis.
- Pubmed
- 15893176
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00996740439685053
- Year of publication
- 2005
Drugs