RS671 ALDH2

Drug Response Chr 12:111803961 snv missense variant
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What This Variant Does
"rs671 is a classic SNP, well known in a sense through the phenomena known as the 'alcohol flush', al...
Associated Conditions
GWAS Studies (20)
Trait Risk Allele OR / Beta P-value Study
Alcohol consumption (drinkers vs non-drinkers) OR: 1.82 1E-4740 PubMed
Daily alcohol intake A OR: 0.59 2E-2658 PubMed
Alcohol consumption (drinks per week) OR: 0.43 1E-450 PubMed
Gamma glutamyl transpeptidase A OR: 0.17 4E-411 PubMed
Gamma glutamyl transpeptidase A OR: 0.17 7E-411 PubMed
Drinking behavior OR: 6.25 4E-211 PubMed
High-density lipoprotein levels A β: 0.085 1E-207 PubMed
Aspartate aminotransferase levels A OR: 0.16 2E-171 PubMed
Coffee consumption OR: 0.35 4E-153 PubMed
Diastolic blood pressure A β: 0.059 6E-117 PubMed
Alanine aminotransferase levels A OR: 0.12 8E-112 PubMed
Myocardial infarction A OR: 0.33 1E-101 PubMed
Myocardial infarction A OR: 0.33 1E-101 PubMed
Systolic blood pressure A β: 0.053 9E-99 PubMed
HDL cholesterol levels A OR: 0.12 8E-96 PubMed
Alcohol consumption A OR: 1.39 8E-92 PubMed
Fasting blood glucose A OR: 0.12 1E-91 PubMed
Mean corpuscular volume A β: 0.085 2E-91 PubMed
Heavy drinking A OR: 1.16 2E-83 PubMed
Alcohol consumption (drinkers vs non-drinkers) OR: 2.5 2E-72 PubMed
ClinVar Assertions (1)
NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys)
· 9 submitters
Population Frequencies
gnomAD ALL
0.7%
1kG AFR
0.2%
1kG ALL
96.4%
1kG AMR
99.7%
1kG EAS
17.4%
1kG EUR
100%
1kG SAS
100%
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