rs12917707

This is a downstream gene variant variant 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.

glomerular filtration rate

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.08
p 2.0e-132
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

serum creatinine amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.08
p 6.0e-130
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry

cystatin C measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 5.0e-84
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry

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 T
OR 0.32
p 8.0e-73
N 10,884
Meta-analysisLarge GWAS
European

chronic kidney disease, serum creatinine amount

Köttgen A et al. “New loci associated with kidney function and chronic kidney disease.” Nature Genetics 42(5):376-84 (2010)
Allele T
OR —
p 1.0e-20
N 67,093
Large GWAS
European

serum urea amount

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 3.0e-20
N 355,637
Major Consortium StudyLarge GWAS
multi-ancestry

GFR change measurement

Gorski M et al. “Genome-wide association study of kidney function decline in individuals of European descent.” Kidney International 87(5):1017-29 (2015)
Allele T
OR 0.14
p 2.0e-17
N 45,530
Large GWAS
European

urinary system trait

Köttgen A et al. “Multiple loci associated with indices of renal function and chronic kidney disease.” Nature Genetics 41(6):712-7 (2009)
Allele T
OR 0.02
p 5.0e-16
N 19,877
Large GWAS
European

chronic kidney disease

Köttgen A et al. “Multiple loci associated with indices of renal function and chronic kidney disease.” Nature Genetics 41(6):712-7 (2009)
Allele G
OR 1.25
p 2.0e-12
N 19,877
Large GWAS
European

urate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 4.0e-9
N 355,426
Major Consortium StudyLarge GWAS
multi-ancestry

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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