rs538697229

This variant is located in the PSMA4 gene.

GWAS Catalog Trait Associations (1)

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

level of cathepsin H in blood

Allele T
OR 1.05
p 5.0e-39
N 47,745
Large GWAS
European

About PSMA4

This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]

View all PSMA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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