Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Arg230Cys (p.R230C)
(
ENST00000374736.8,
ENST00000423487.6,
ENST00000678995.1 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- The ATP-binding cassette transporter A1 (ABCA1) R230C variant is associated with low HDL cholesterol levels, obesity, and the metabolic syndrome in Mexican-Mestizos.
- Pubmed
- 18003760
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125819831445525
- Year of publication
- 2008
Drugs