Annotation Detail

Information
Associated Genes
CETP
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 Arteriosclerosis
Source Database
DisGeNET
Description
Increased risk of premature coronary artery disease in Egyptians with ABCA1 (R219K), CETP (TaqIB), and LCAT (4886C/T) genes polymorphism.
Pubmed
25110219
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0434855764478825
Year of publication
2014
Drugs