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
Coronary heart disease
Source Database
DisGeNET
Description
Quantitative assessment of the effect of ABCA1 R219K polymorphism on the risk of coronary heart disease.
Pubmed
21643759
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0442300075406052
Year of publication
2012
Drugs