rs181513970

This is a downstream gene variant variant in the POLD1 gene.

GWAS Catalog Trait Associations (1)

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

atrial fibrillation

Allele A
OR 0.33
p 2.0e-30
N 1,840,341
Large GWAS
European
Allele A
OR 1.44
p 4.0e-10
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.36
p 5.0e-8
N 589,441
Large GWAS
multi-ancestry

About POLD1

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

View all POLD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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