rs4621706

This is a intron variant variant in the POU6F2 gene.

GWAS Catalog Trait Associations (2)

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

grip strength measurement

Allele C
OR 0.01
p 3.0e-15
N 404,112
Large GWAS
European
Allele C
OR 0.01
p 3.0e-14
N 394,642
Large GWAS
European

alcohol consumption quality

Saunders GRB et al. Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature 612(7941):720-724 (2022)
Allele T
OR 0.01
p 5.0e-15
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

About POU6F2

This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

View all POU6F2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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