Annotation Detail
Information
- Associated Genes
- AVP
- Associated Variants
-
ADH1B p.His48Arg (p.H48R)
(
ENST00000305046.13,
ENST00000506651.5,
ENST00000625860.2 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 ) - Associated Disease
- Alcoholic Intoxication, Chronic
- Source Database
- DisGeNET
- Description
- In conclusion, the rare ADH1B rs1229984 mutation provides significant protection against ADS in this British and Irish population; other variants in the ADH gene cluster also alter ADS risk, although the strong linkage disequilibrium between SNPs at this location precluded clear identification of the variant(s) driving the associations.
- Pubmed
- 24735490
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0143864192202561
- Year of publication
- 2016
Drugs