rs2602836

This is a upstream gene variant variant in the LOC100507053 gene.

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GWAS Catalog Trait Associations (2)

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

protein measurement

He B et al. “Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.” Bmc Biology 18(1):97 (2020)
Allele A
OR 0.22
p 2.0e-22
N 287
Small GWAS
multi-ancestry

high density lipoprotein cholesterol measurement

Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele A
OR —
β 0.019
p 5.0e-8
N 94,595
Large GWAS
European
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Research that mentions this SNP (1)

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Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication
AssociationN=1,371Byung Lae Park et al.(2013)· Human Genetics

This GWAS and replication study in a Korean cohort identified genetic associations with alcohol dependence (AD), with the ADH gene cluster on chromosome 4q22-q23 and ALDH2 on 12q24 showing the strongest signals. The most significant finding was ADH1B rs1229984 (H47R) with p=2.63×10⁻²¹ and OR=2.35 in the replication cohort of 975 subjects. Conditional analyses revealed that ADH1B rs1229984 is likely the sole functional marker driving effects across the ADH cluster.

Traits studied:Alcohol dependence
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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