Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340628
rs151340628
CLCN5
0.800 GeneticVariation UNIPROT Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure. 19019917

2009
dbSNP: rs151340628
rs151340628
CLCN5
0.800 GeneticVariation UNIPROT Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease). 11136179

2001
dbSNP: rs151340628
rs151340628
CLCN5
0.800 GeneticVariation UNIPROT Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). 9062355

1997
dbSNP: rs151340628
rs151340628
CLCN5
C 0.800 CausalMutation CLINVAR

dbSNP: rs151340620
rs151340620
CLCN5
A 0.700 CausalMutation CLINVAR

dbSNP: rs151340627
rs151340627
CLCN5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569540520
rs1569540520
CLCN5
A 0.700 CausalMutation CLINVAR