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
- Flushing
- Source Database
- DisGeNET
- Description
- ALDH2 is strongly associated with flushing response, AD, and maximum drinks in males, with nonsynonymous SNP rs671 explaining 29.2%, 7.9%, and 22.9% of phenotypic variation, respectively, in this sample.
- Pubmed
- 24277619
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.157437910391995
- Year of publication
- 2013
Drugs