rs29001570

This is a intron variant variant in the ADH5 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

alcohol consumption quality

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele C
OR 0.14
p 4.0e-259
N 2,428,851
Large GWAS
European
Clarke TK et al. “Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112 117).” Molecular Psychiatry 22(10):1376-1384 (2017)
Allele C
OR 0.03
p 1.0e-10
N 112,117
Major Consortium StudyLarge GWAS
European

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele T
OR 0.80
p 3.0e-18
N 1,011,521
Large GWAS
European

About ADH5

This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]

View all ADH5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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