rs515186

This is a intron variant variant in the PXT1 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

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele G

OR 0.04

p 6.0e-21

N 164,454

Large GWAS

European

About PXT1

Predicted to be involved in spermatogenesis. Predicted to act upstream of or within positive regulation of apoptotic process. Predicted to be located in nucleus and peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

View all PXT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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