Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Arg219Lys (p.R219K)
(
ENST00000374736.8,
ENST00000423487.6,
ENST00000678995.1 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- atherosclerosis
- Source Database
- DisGeNET
- Description
- The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in ABCA1 could influence the development and progression of atherosclerosis in FH subjects.
- Pubmed
- 12624133
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.184528184944774
- Year of publication
- 2003
Drugs