rs2425157

This is a regulatory region variant variant in the PHF20 gene.

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GWAS Catalog Trait Associations (1)

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

platelet volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR —

p 2.0e-15

N 484,042

Large GWAS

multi-ancestry

About PHF20

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in cytosol; nuclear membrane; and nucleoplasm. Part of MLL1 complex and NSL complex. [provided by Alliance of Genome Resources, Jul 2025]

View all PHF20 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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