rs164748
This variant is located in the DPEP1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum creatinine amount
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 2.0e-33
N 450,015
Large GWAS
multi-ancestry
serum creatinine amount, glomerular filtration rate
Pattaro C et al. “Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.” Nature Communications 7:10023 (2016)
Allele C
OR —
β 0.005
p 2.0e-8
N 118,448
Large GWAS
European
glomerular filtration rate
Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele G
OR —
β 0.019
p 2.0e-19
N 406,504
Large GWAS
European
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…