rs80080062
This is a intron variant variant in the ETV5 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
free cholesterol in HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 2.0e-27
N 450,015
Large GWAS
multi-ancestry
alcohol drinking, high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR —
p 1.0e-11
N 127,326
Large GWAS
multi-ancestry
self reported educational attainment
Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele C
OR 0.01
p 6.0e-9
N 1,131,881
Large GWAS
European
alcohol consumption quality, high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR —
p 6.0e-12
N 71,394
Large GWAS
multi-ancestry
About ETV5
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
View all ETV5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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