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
Cardiovascular Diseases
Source Database
DisGeNET
Description
The potential associations between G1051A (R219K) and -565C/T genetic polymorphisms in the ABCA1 gene, high-density lipoprotein cholesterol (HDL-C) and subclinical cardiovascular disease in the general population remains unclear.
Pubmed
16879828
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0107057851429707
Year of publication
2007
Drugs