Annotation Detail

Information
Associated Genes
ABCA1
Associated Variants
ABCA1 p.Ile883Met (p.I883M) ( ENST00000374736.8, ENST00000678995.1 )
ABCA1 p.Ile883Met (p.I883M) ( ENST00000374736.8, ENST00000678995.1 )
Associated Disease
coronary artery disease
Source Database
DisGeNET
Description
ATP-binding cassette transporter A1 gene I823M polymorphism affects plasma high-density lipoprotein cholesterol level and modifies the effect of low high-density lipoprotein cholesterol on the risk of coronary artery disease.
Pubmed
17268197
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.038348043921685
Year of publication
2007
Drugs