Annotation Detail

Information
Associated Genes
ADH1B
Associated Variants
ADH1B MUTATION
ADH1B MUTATION
ADH1B p.Arg370Cys (p.R370C) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1B p.His48Arg (p.H48R) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 )
ADH1B p.Arg370Cys (p.R370C) ( 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
We tested the most significant ADH1B single nucleotide polymorphisms for alcohol dependence from a genomewide association study with this sample, ADH1B-rs1229984 (Arg48His) and ADH1B-rs2066702 (Arg370Cys), in EA and AA subsamples, respectively.
Pubmed
25410943
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.347415629080111
Year of publication
2014
Drugs