Annotation Detail
Information
- Associated Genes
- ADH1B
- Associated Variants
-
ADH1B p.Arg370Cys (p.R370C)
(
ENST00000305046.13,
ENST00000506651.5,
ENST00000625860.2 )
ADH1B p.Arg370Cys (p.R370C) ( ENST00000305046.13, ENST00000506651.5, ENST00000625860.2 ) - Associated Disease
- alcohol dependence
- Source Database
- ClinVar
- Description
- NM_000668.6(ADH1B):c.1108C>T (p.Arg370Cys) AND Alcohol dependence
- ClinVar Allele ID
- 33222
- ClinVar RefSeq Alternation Syntax
- NM_001286650.2:c.988C>T
- ClinVar RefSeq Alternation Syntax
- NM_000668.6:c.1108C>T
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2007-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019815
- ClinVar Disease
- Alcohol dependence
- Observed Origin Sample
- germline
- Pubmed
- 17718394
- Pubmed
- 3619918
- Pubmed
- 10697413
- Pubmed
- 6354175
- Pubmed
- 7035335
- Pubmed
- 7003596
Drugs