rs7014346

This variant is located in the POU5F1B gene.

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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

Tenesa A et al. “Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.” Nature Genetics 40(5):631-7 (2008)
Allele A
OR 1.19
p 9.0e-26
N 1,983
Large GWAS
multi-ancestry
Zeng C et al. “Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.” Gastroenterology 150(7):1633-1645 (2016)
Allele A
OR 1.13
p 2.0e-8
N 21,096
Large GWAS
East Asian
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 A
OR 1.19
p 6.0e-15
N 17,556
Meta-analysisLarge GWAS
European

colon carcinoma

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele A
OR 1.22
p 4.0e-17
N 414,143
Large GWAS
European
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Research that mentions this SNP (1)

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Genome-wide investigation of gene–environment interactions in colorectal cancer
AssociationN=1,576Sabine Siegert et al.(2013)· Human Genetics

Genome-wide investigation of gene-environment interactions in colorectal cancer using a two-tiered case-only/case-control design. In 314 sporadic CRC cases (stage I) and 259 familial CRC cases plus 1,002 controls (stage II), rs1944511 showed a significant interaction with overweight (OR=2.00, p=0.042 after multiple testing correction). Several other SNPs showed nominally significant G×E interactions with overweight, smoking, and alcohol consumption. Among candidate CRC-associated SNPs, rs9929218 showed the strongest interaction with alcohol consumption (nominal p=0.008).

Traits studied:Alcohol consumptionColorectal cancerOverweightSmoking
PubMedDOIMetascience Observatory

About POU5F1B

This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]

View all POU5F1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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