Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934584
rs28934584
UMOD
0.800 GeneticVariation UNIPROT A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. 27729211

2017
dbSNP: rs28934584
rs28934584
UMOD
0.800 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415

2015
dbSNP: rs28934584
rs28934584
UMOD
0.800 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121

2006
dbSNP: rs28934584
rs28934584
UMOD
0.800 GeneticVariation UNIPROT Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. 14531790

2003
dbSNP: rs28934584
rs28934584
UMOD
0.800 GeneticVariation UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709

2003
dbSNP: rs28934584
rs28934584
UMOD
0.800 GeneticVariation UNIPROT Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200

2002
dbSNP: rs28934584
rs28934584
UMOD
A 0.800 CausalMutation CLINVAR

dbSNP: rs1555487621
rs1555487621
UMOD
0.700 GeneticVariation UNIPROT A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. 27729211

2017
dbSNP: rs1555487621
rs1555487621
UMOD
0.700 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415

2015
dbSNP: rs1555487621
rs1555487621
UMOD
0.700 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121

2006
dbSNP: rs1555487621
rs1555487621
UMOD
0.700 GeneticVariation UNIPROT Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. 14531790

2003
dbSNP: rs1555487621
rs1555487621
UMOD
0.700 GeneticVariation UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709

2003
dbSNP: rs1555487621
rs1555487621
UMOD
0.700 GeneticVariation UNIPROT Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200

2002
dbSNP: rs1555487318
rs1555487318
UMOD
G 0.700 CausalMutation CLINVAR

dbSNP: rs878855325
rs878855325
UMOD
AGGAGGCGG 0.700 CausalMutation CLINVAR

dbSNP: rs886043751
rs886043751
UMOD
0.700 GeneticVariation UNIPROT