rs35747824

This is a upstream gene variant variant in the PDILT gene.

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GWAS Catalog Trait Associations (4)

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

blood urea nitrogen amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 5.0e-31
N 148,767
Large GWAS
East Asian

urolithiasis

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.12
p 3.0e-12
N 178,726
Large GWAS
East Asian
Tanikawa C et al. “Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.” Journal of the American Society of Nephrology : Jasn 30(5):855-864 (2019)
Allele T
OR 1.11
p 9.0e-11
N 198,769
Large GWAS
East Asian

serum creatinine amount, age at assessment

Namba S et al. “A cross-population compendium of gene-environment interactions.” Nature 651(8106):688-697 (2026)
Allele T
OR 0.01
p 4.0e-12
N 143,709
Large GWAS
multi-ancestry

nephrolithiasis

Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)
Allele A
OR 0.89
p 8.0e-12
N 255,171
Large GWAS
East Asian

About PDILT

This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]

View all PDILT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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