Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917772
rs121917772
C 0.700 CausalMutation CLINVAR

dbSNP: rs121917773
rs121917773
0.800 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121

2006

dbSNP: rs121917773
rs121917773
0.800 GeneticVariation UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709

2003

dbSNP: rs121917773
rs121917773
G 0.800 CausalMutation CLINVAR