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
- arteriosclerosis
- Source Database
- DisGeNET
- Description
- The R219K polymorphism in the ATP-binding cassette transporter 1 gene ( ABCA1) has been associated with reduced severity of atherosclerosis, fewer coronary events, decreased triglycerides and a trend to increased HDL in men with coronary heart disease (CHD).
- Pubmed
- 12700893
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0206295822781031
- Year of publication
- 2003
Drugs