rs36060036

This variant is located in the UMOD gene.

GWAS Catalog Trait Associations (31)

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

serum creatinine amount

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.11
p 3.0e-184
N 600,139
Major Consortium StudyLarge GWAS
multi-ancestry

hypertensive heart disease, kidney disease

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.11
p 2.0e-37
N 419,579
Major Consortium StudyLarge GWAS
European

chronic kidney disease

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.24
p 1.0e-29
N 447,743
Major Consortium StudyLarge GWAS
European

insulin-like growth factor-binding protein 6 level

Allele T
OR 0.07
p 5.0e-28
N 47,745
Large GWAS
European

ecto-ADP-ribosyltransferase 3 measurement

Allele T
OR 0.06
p 6.0e-22
N 47,745
Large GWAS
European

CXADR-like membrane protein measurement

Allele T
OR 0.06
p 1.0e-20
N 47,745
Large GWAS
European

neuroblastoma suppressor of tumorigenicity 1 measurement

Allele T
OR 0.07
p 1.0e-20
N 47,745
Large GWAS
European

tgf-beta receptor type-2 measurement

Allele T
OR 0.06
p 1.0e-19
N 47,745
Large GWAS
European

glomerular filtration rate

Robinson-Cohen C et al. Genome-Wide Association Study of CKD Progression. Journal of the American Society of Nephrology : Jasn 34(9):1547-1559 (2023)
Allele A
OR 0.27
p 2.0e-18
N 61,087
Large GWAS
European

ClinVar annotation

Benign★★★
2 submitters1 publication
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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