rs12934455

This variant is located in the UMOD gene.

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GWAS Catalog Trait Associations (11)

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

urinary uromodulin measurement

Joseph CB et al. “Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.” Journal of the American Society of Nephrology : Jasn 33(3):511-529 (2022)
Allele T
OR 0.23
p 2.0e-88
N 29,315
Large GWAS
European

level of butyrophilin subfamily 2 member A1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 1.0e-20
N 47,745
Large GWAS
European

tumor necrosis factor receptor superfamily member 1A amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 1.0e-18
N 47,745
Large GWAS
European

cystatin C measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 4.0e-17
N 47,745
Large GWAS
European

prostaglandin-H2 D-isomerase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 1.0e-16
N 47,745
Large GWAS
European

nectin-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 9.0e-16
N 47,745
Large GWAS
European

cystatin-M measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 2.0e-15
N 47,745
Large GWAS
European

collagen alpha-3(VI) chain measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 1.0e-13
N 47,745
Large GWAS
European

ephrin type-A receptor 2 amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 1.0e-11
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

About UMOD

The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]

View all UMOD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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