rs3218642

This variant is located in the POLQ gene.

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GWAS Catalog Trait Associations (1)

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

cutaneous mastocytosis

Nedoszytko B et al. “Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.” International Journal of Molecular Sciences 21(15) (2020)

Allele T

OR 3.98

p 3.0e-8

N 5,684

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

3 submitters1 publication

not specified; POLQ-related disorder; not provided

View on ClinVar →

About POLQ

Enables several functions, including catalytic activity, acting on DNA; identical protein binding activity; and magnesium ion binding activity. Involved in DNA metabolic process; negative regulation of double-strand break repair via homologous recombination; and protein homooligomerization. Located in Golgi apparatus; cytosol; and nucleoplasm. Is active in mitochondrial nucleoid; nucleus; and site of double-strand break. [provided by Alliance of Genome Resources, Jul 2025]

View all POLQ variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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