rs8057254

This is a upstream gene variant variant in the USP7 gene.

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GWAS Catalog Trait Associations (3)

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

platelet volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 2.0e-37
N 394,642
Large GWAS
European

platelet reactivity efficacy

Verdier H et al. “A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk.” Blood 142(22):1895-1908 (2023)
Allele A
OR 0.06
p 3.0e-9
N 29,806
Large GWAS
European

About USP7

The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]

View all USP7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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