rs3747343

This variant is located 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.

monocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele C

OR 0.01

p 3.0e-10

N 408,112

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

not specified; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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Identification of aDMBT1polymorphism associated with increased breast cancer risk and decreased promoter activity

FunctionalTchatchou S. et al.(2010)· Human Mutation

This functional study identified 60 candidate differential allele-specific expression (DASE) loci in normal breast mammary epithelial cells using genome-wide SNP array analysis and validated them through Sanger sequencing. Key findings include identification of DMBT1 rs2981745 as a causal variant for DASE (DASE=2.03, P=0.0017, FDR=0.014), along with cancer-related genes ZNF331 and USP6 in a breast cancer-relevant pathway network. The study demonstrates that global DASE analysis is a novel approach for identifying breast cancer risk alleles.

Traits studied:Breast cancer riskBreast cancer susceptibility

PubMed DOI Metascience Observatory

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]