UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917768
rs121917768
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121917771
rs121917771
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.800 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs28934582
rs28934582
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.800 GeneticVariation GWASDB Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. 20686651 2010
dbSNP: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.800 GeneticVariation GWASCAT Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. 20686651 2010
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1561643
Disease:
Chronic Kidney Diseases 		T 0.730 GeneticVariation GWASDB New loci associated with kidney function and chronic kidney disease. 20383146 2010
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.720 GeneticVariation GWASCAT Genome-wide association study of kidney function decline in individuals of European descent. 25493955 2015
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.720 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011847
Disease:
Diabetes 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		T 0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011849
Disease:
Diabetes Mellitus 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs12922822
rs12922822
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011849
Disease:
Diabetes Mellitus 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs12922822
rs12922822
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs12922822
rs12922822
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0011847
Disease:
Diabetes 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. 30604766 2019
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0022661
Disease:
Kidney Failure, Chronic 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs13329952
rs13329952
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0201976
Disease:
Creatinine measurement, serum (procedure) 		T 0.700 GeneticVariation GWASCAT Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 26831199 2016
dbSNP: rs1555486021
rs1555486021
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555487528
rs1555487528
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121917773
rs121917773
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1835934
Disease:
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1555487318
rs1555487318
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		G 0.800 CausalMutation CLINVAR