rs17246404

This is a 3 prime utr variant variant in the POT1 gene.

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GWAS Catalog Trait Associations (1)

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

chronic lymphocytic leukemia

Speedy HE et al. “A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.” Nature Genetics 46(1):56-60 (2014)

Allele C

OR 1.22

p 3.0e-8

N 6,938

Large GWAS

European

About POT1

This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

View all POT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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