rs17094983

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (2)

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

colorectal cancer, colorectal adenoma

Huyghe JR et al. “Discovery of common and rare genetic risk variants for colorectal cancer.” Nature Genetics 51(1):76-87 (2019)
Allele G
OR 1.09
p 5.0e-11
N 125,478
Large GWAS
multi-ancestry

colorectal cancer

Schmit SL et al. “Novel Common Genetic Susceptibility Loci for Colorectal Cancer.” Journal of the National Cancer Institute 111(2):146-157 (2019)
Allele G
OR 1.11
p 8.0e-10
N 67,812
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1
AssociationN=31,004Mathieu Lemire et al.(2015)· Human Genetics

A genome-wide association study of colorectal cancer identified rs17094983 at 14q23.1 as a risk locus (p=2.5×10^-10, OR=0.87, 95% CI: 0.83-0.91, MAF=13%) by excluding controls with family history or prior polyp diagnosis. The association was replicated in African descent samples (p=0.01, OR=0.86, 95% CI: 0.77-0.97) and the minor allele is inversely associated with CRC risk. The locus showed association with RTN1 (Reticulon 1) gene expression in colon tissues (p=0.001 for genotype association, p=1.3×10^-8 for differential expression between tumors and normal tissues).

Traits studied:Colorectal cancer
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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