rs28934584
|
|
|
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 |
rs28934584
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pathogenic uromodulin mutations result in premature intracellular polymerization.
|
25436415 |
2015 |
rs28934584
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Defective intracellular trafficking of uromodulin mutant isoforms.
|
17010121 |
2006 |
rs28934584
|
|
|
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 |
rs28934584
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
|
14570709 |
2003 |
rs28934584
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
|
12471200 |
2002 |
rs28934584
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1555487621
|
|
|
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 |
rs1555487621
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Pathogenic uromodulin mutations result in premature intracellular polymerization.
|
25436415 |
2015 |
rs1555487621
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Defective intracellular trafficking of uromodulin mutant isoforms.
|
17010121 |
2006 |
rs1555487621
|
|
|
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 |
rs1555487621
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
|
14570709 |
2003 |
rs1555487621
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
|
12471200 |
2002 |
rs1555487318
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs878855325
|
|
AGGAGGCGG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886043751
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|