rs2139455

This is a downstream gene variant variant in the DPEP1 gene.

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GWAS Catalog Trait Associations (2)

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

cysteinylglycine disulfide measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)

Allele T

OR 0.23

p 1.0e-26

N 8,216

Large GWAS

European

cys-gly, oxidized measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele T

OR 0.25

p 2.0e-23

N 7,081

Large GWAS

multi-ancestry

About DPEP1

The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 2020]

View all DPEP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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