rs12917707, UMOD

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
0.800 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
0.800 GeneticVariation GWASDB Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. 23535967 2013
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.730 GeneticVariation BEFREE The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. 28418009 2018
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.730 GeneticVariation BEFREE The rs12917707 was not associated with CKD. 28954491 2017
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.730 GeneticVariation BEFREE In recent genetic association studies, common variants including rs12917707 in the UMOD locus have shown strong evidence of association with eGFR, prevalent and incident chronic kidney disease and uromodulin urinary concentration in general population cohorts. 22947327 2012
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.730 GeneticVariation GWASDB Genome-wide association and functional follow-up reveals new loci for kidney function. 22479191 2012
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
0.730 GeneticVariation GWASDB New loci associated with kidney function and chronic kidney disease. 20383146 2010
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.720 GeneticVariation GWASCAT Genome-wide association study of kidney function decline in individuals of European descent. 25493955 2015
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.720 GeneticVariation BEFREE We tested a large cohort of Caucasian patients for association of rs12917707 with IgA nephropathy showing a benign, stable course and with IgA nephropathy that progressed toward end stage renal failure. 25163389 2014
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.720 GeneticVariation BEFREE The rs12917707 minor allele showed association with lower risk of ESRD (OR 0.89 [0.76-1.03], p = 0.04) consistent in effect size and direction with the previous report (Böger et al, PLoS Genet 2011). 22947327 2012
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.720 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.720 GeneticVariation GWASCAT Multiple loci associated with indices of renal function and chronic kidney disease. 19430482 2009
Diabetes
CUI: C0011847
Disease: Diabetes
0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
Creatinine measurement, serum (procedure)
0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
Creatinine measurement, serum (procedure)
0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. 28418009 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE We investigated the associations between an important single nucleotide polymorphism (SNP) in UMOD, that is rs12917707-G>T, and estimated glomerular filtration rate (eGFR), BP and cardiac organ damage as determined by echocardiography in patients with arterial hypertension. 28598953 2017
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
0.020 GeneticVariation BEFREE We tested a large cohort of Caucasian patients for association of rs12917707 with IgA nephropathy showing a benign, stable course and with IgA nephropathy that progressed toward end stage renal failure. 25163389 2014
Chronic kidney disease stage 5
CUI: C2316810
Disease: Chronic kidney disease stage 5
0.020 GeneticVariation BEFREE The rs12917707 minor allele showed association with lower risk of ESRD (OR 0.89 [0.76-1.03], p = 0.04) consistent in effect size and direction with the previous report (Böger et al, PLoS Genet 2011). 22947327 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The rs12917707 polymorphism at the UMOD locus and glomerular filtration rate in individuals with type 2 diabetes: evidence of heterogeneity across two different European populations. 27448670 2017
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.010 GeneticVariation BEFREE The common rs12917707 polymorphism previously linked to renal function and kidney disease was not associated with impaired filtration rate in our cohort. 26040415 2015
IGA Glomerulonephritis
CUI: C0017661
Disease: IGA Glomerulonephritis
0.010 GeneticVariation BEFREE We tested a large cohort of Caucasian patients for association of rs12917707 with IgA nephropathy showing a benign, stable course and with IgA nephropathy that progressed toward end stage renal failure. 25163389 2014