Annotation Detail

Information
Associated Genes
ALDH2
Associated Variants
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
Associated Disease
coronary artery disease
Source Database
DisGeNET
Description
[In the replication phase, involving 3052 cases and 6335 controls, 12 SNPs were tested; CAD association was replicated and/or verified for 4 (of 12) SNPs from 3 loci: near BRAP and ALDH2 on 12q24 (P=1.6 A 10(-34)), HLA-DQB1 on 6p21 (P=4.7 A 10(-7)), and CDKN2A/B on 9p21 (P=6.1 A 10(-16)).]
Pubmed
21971053
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00717704080592679
Year of publication
2012
Drugs