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
- Dyslipidemias
- Source Database
- DisGeNET
- Description
- Low plasma high-density lipoprotein cholesterol (HDL-C) levels are the most common dyslipidemia in Mexican adults and are coupled with the presence of the ABCA1 R230C genotype.
- Pubmed
- 20797885
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00845830529620761
- Year of publication
- 2010
Drugs