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SNP information rs4293393

Normal allele: GG

A break in the UMOD gene as a major predisposition gene for terminal renal failure. The gene directly affects levels of uromodulin, glomerular filtration rate and increased degree of albuminuria.higher risk of Crohn's disease.

Polymorphism rs4293393 is related to topics like this:

Renal failure

Research and publications:

  19959715   Uromodulin levels associate with a common UMOD variant and risk for incident CKD.

  20222955   A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.

  20686651   Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

  21082022   Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.

  21931561   Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.

  22044751   Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.

  22693617   Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.

  22773901   SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma.

  22947327   UMOD as a susceptibility gene for end-stage renal disease.

  23894628   Influence of genetic variation on plasma protein levels in older adults using a multi-analyte panel.

  25238615   A gene variant in CERS2 is associated with rate of increase in albuminuria in patients with diabetes from ONTARGET and TRANSCEND.

  25807366   Urinary proteins, vitamin D and genetic polymorphisms as risk factors for febrile urinary tract infection and relation with bacteremia: a case control study.

  26683887   Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion.

  26966016   The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution.

  27187191   Development and characterization of a pseudo multiple reaction monitoring method for the quantification of human uromodulin in urine.

  28361944   Association Study of Reported Significant Loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with Urolithiasis in Chinese Han Ethnicity.

  28753889   The Association of Uromodulin Genotype with Renal Cancer Aggressiveness.

  29578190   Uromodulin rs4293393 T>C variation is associated with kidney disease in patients with type 2 diabetes.

  30715578   Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.

  31231424   Genetic and Epigenetic Studies in Diabetic Kidney Disease.

  32954071   Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

  34071541   Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.

  34593962   Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults.


  34828293   UMOD Polymorphisms Associated with Kidney Function, Serum Uromodulin and Risk of Mortality among Patients with Chronic Kidney Disease, Results from the C-STRIDE Study.

  35967117   Phenome-Wide Association Study of UMOD Gene Variants and Differential Associations With Clinical Outcomes Across Populations in the Million Veteran Program a Multiethnic Biobank.