rs4494548

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

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GWAS Catalog Trait Associations (2)

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

urinary uromodulin measurement

Olden M et al. “Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.” Journal of the American Society of Nephrology : Jasn 25(8):1869-82 (2014)
Allele A
OR 0.17
p 4.0e-15
N 10,884
Meta-analysisLarge GWAS
European

glomerular filtration rate

Morris AP et al. “Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.” Nature Communications 10(1):29 (2019)
Allele A
OR 0.36
p 3.0e-9
N 312,296
Large GWAS
multi-ancestry

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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