rs187891579

This is a intron variant variant in the DEF8 gene.

GWAS Catalog Trait Associations (1)

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

strand of hair color

Jiang L et al. A generalized linear mixed model association tool for biobank-scale data. Nature Genetics 53(11):1616-1621 (2021)
Allele C
OR 0.81
p 3.0e-13
N 455,164
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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