rs8063761

This is a intron variant variant in the DEF8 gene.

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GWAS Catalog Trait Associations (1)

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

squamous cell carcinoma

Siiskonen SJ et al. “A Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma among European Descendants.” Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology 25(4):714-20 (2016)

Allele T

OR 1.34

p 2.0e-9

N 13,550

Large GWAS

European

About DEF8

Predicted to enable zinc ion binding activity. Predicted to be involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. [provided by Alliance of Genome Resources, Jul 2025]

View all DEF8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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