rs3824999

This is a regulatory region variant variant in the POLD3 gene.

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GWAS Catalog Trait Associations (1)

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

colorectal cancer

Al-Tassan NA et al. “A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.” Scientific Reports 5:10442 (2015)
Allele C
OR 1.15
p 8.0e-11
N 17,556
Meta-analysisLarge GWAS
European
Schmit SL et al. “Novel Common Genetic Susceptibility Loci for Colorectal Cancer.” Journal of the National Cancer Institute 111(2):146-157 (2019)
Allele C
OR 1.08
p 4.0e-10
N 67,812
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Colorectal cancer susceptibility loci as predictive markers of rectal cancer prognosis after surgery
AssociationN=243Hu Y. et al.(2018)· Genes, Chromosomes and Cancer

This study analyzes 243 rectal cancer patients to determine if colorectal cancer (CRC) susceptibility SNPs are associated with rectal cancer prognosis. SNPs on 8q24 (rs6983267 near MYC), 18q21 (rs12953717, rs4464148 in SMAD7), and 20q13 (rs4925386 in LAMA5) are found to be associated with disease-free survival and overall survival in rectal cancer patients, with some alleles associated with better or worse prognosis despite their effects on CRC risk.

Traits studied:Chemoradiotherapy resistanceColorectal cancerDisease-free survivalOverall survivalRectal cancer
PubMedDOIMetascience Observatory

About POLD3

This gene encodes the 66-kDa 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. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

View all POLD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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