rs117573122

This is a regulatory region variant variant in the POLR2A gene.

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GWAS Catalog Trait Associations (3)

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

sex hormone-binding globulin measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 1.29
p —
N 322,484
Major Consortium StudyLarge GWAS
multi-ancestry

testosterone measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.35
p 5.0e-119
N 322,594
Major Consortium StudyLarge GWAS
multi-ancestry

estradiol measurement

Oppenheimer H et al. “No causal links between estradiol and female's brain and mental health using Mendelian randomization.” Nature Communications 16(1):10915 (2025)
Allele C
OR 0.26
p 1.0e-8
N 34,697
Large GWAS
European

About POLR2A

This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]

View all POLR2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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