rs3136739
This is a upstream gene variant variant in the POLB gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
tissue plasminogen activator amount
Huang J et al. “Genome-wide association study for circulating tissue plasminogen activator levels and functional follow-up implicates endothelial STXBP5 and STX2.” Arteriosclerosis, Thrombosis, and Vascular Biology 34(5):1093-101 (2014)
Allele A
OR 0.06
p 1.0e-9
N 26,929
Large GWAS
European
About POLB
The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
View all POLB variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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