Annotation Detail
Information
- Associated Genes
- ADH1B
- Associated Variants
-
ALDH2 p.Glu504Lys (p.E504K)
(
ENST00000261733.7,
ENST00000416293.7 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 ) - Associated Disease
- Alcoholic Intoxication, Chronic
- Source Database
- DisGeNET
- Description
- Genetic polymorphisms of alcohol dehydrogenase-1B (ADH1B, rs1229984) and aldehyde dehydrogenase-2 (ALDH2, rs671) affect ethanol (EtOH) metabolism and susceptibility to alcoholism.
- Pubmed
- 23969552
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.347415629080111
- Year of publication
- 2014
Drugs