rs3788853

This is a regulatory region variant variant in the XPNPEP2 gene.

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GWAS Catalog Trait Associations (1)

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

uric acid measurement

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 0.01

p 4.0e-8

N 473,241

Large GWAS

multi-ancestry

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ClinVar annotation

Risk Factor

1 submitter3 publications

Susceptibility to angioedema induced by ACE inhibitors

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About XPNPEP2

Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]

View all XPNPEP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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