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
cerebral infarction
Source Database
DisGeNET
Description
The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population.
Pubmed
18621447
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00554838957344497
Year of publication
2010
Drugs