rs72781643

This is a intron variant variant in the UBXN2A 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 count

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele A

OR 0.02

p 5.0e-16

N 928,679

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele A

OR 0.02

p 7.0e-12

N 499,097

Large GWAS

multi-ancestry

About UBXN2A

Predicted to enable ubiquitin binding activity. Involved in negative regulation of ERAD pathway and positive regulation of protein catabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all UBXN2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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