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Learn · Variants · ALDH2

rs671 ALDH2

ALDH2 deficient. Cannot metabolize acetaldehyde; severe alcohol flush reaction. Increased esophageal cancer risk with alcohol use. Common in East Asian populations.

Curated · human-reviewed Trait · Risk / effect allele: A · dbSNP

What is rs671?

rs671 is a single-nucleotide polymorphism (SNP) in the ALDH2 gene (Aldehyde dehydrogenase 2). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as AA. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.

What does each rs671 genotype mean?

GenotypeAssociationWhat the evidence saysConfidence
AAtypical / lowerALDH2 deficient. Cannot metabolize acetaldehyde; severe alcohol flush reaction. Increased esophageal cancer risk with alcohol use. Common in East Asian populations.95%
GA / AGtypical / lowerPartial ALDH2 deficiency. Alcohol flush reaction likely. Moderate cancer risk with regular alcohol use.92%
GGtypical / lowerNormal ALDH2 function. Typical alcohol metabolism.93%

How common is the A allele of rs671?

Minor-allele frequency by population (gnomAD / 1000 Genomes):

European0.1%
East Asian22.0%
African0.1%
South Asian0.1%
Admixed American2.0%
Global5.0%

Which drugs have annotations for rs671?

PharmGKB clinical annotations (level 1A is the strongest evidence, 4 the weakest):

DrugAnnotation typeEvidence level
ethanolToxicity, Metabolism/PK, Other, Efficacy2B
acetaldehydeToxicity, Metabolism/PK, Other, Efficacy2B
heroinToxicity, Metabolism/PK2B

Is rs671 on 23andMe and AncestryDNA chips?

Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.

Sources

Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.