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: rs121917772
rs121917772
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4020705
Disease:
Glomerulocystic kidney disease
0.010 GeneticVariation BEFREE The Cys300Gly mutation was found in the family presenting with a GCKD phenotype. 15983957 2005