rs200141259

This variant is located in the POU5F1B 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

Tian J et al. “Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies.” Genome Medicine 16(1):81 (2024)

Allele G

OR —

β 0.074

p 2.0e-9

N 839,703

Large GWAS

multi-ancestry

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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