Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151340622
rs151340622
CLCN5
G 0.800 CausalMutation CLINVAR

dbSNP: rs151340623
rs151340623
CLCN5
C 0.800 CausalMutation CLINVAR

dbSNP: rs151340630
rs151340630
CLCN5
T 0.800 CausalMutation CLINVAR

dbSNP: rs1049618423
rs1049618423
CLCN5
T 0.700 CausalMutation CLINVAR

dbSNP: rs151340620
rs151340620
CLCN5
A 0.700 CausalMutation CLINVAR

dbSNP: rs151340621
rs151340621
CLCN5
T 0.700 CausalMutation CLINVAR Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? 19806368

2009
dbSNP: rs151340621
rs151340621
CLCN5
T 0.700 CausalMutation CLINVAR Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study. 16822791

2006
dbSNP: rs151340621
rs151340621
CLCN5
T 0.700 CausalMutation CLINVAR Renal chloride channel, CLCN5, mutations in Dent's disease. 10469281

1999
dbSNP: rs151340621
rs151340621
CLCN5
T 0.700 CausalMutation CLINVAR Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease. 9853249

1998
dbSNP: rs151340621
rs151340621
CLCN5
T 0.700 CausalMutation CLINVAR A common molecular basis for three inherited kidney stone diseases. 8559248

1996
dbSNP: rs151340621
rs151340621
CLCN5
T 0.700 CausalMutation CLINVAR 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: rs151340626
rs151340626
CLCN5
T 0.700 GeneticVariation CLINVAR A common molecular basis for three inherited kidney stone diseases. 8559248

1996
dbSNP: rs151340626
rs151340626
CLCN5
T 0.700 GeneticVariation CLINVAR Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. 19546591

2009
dbSNP: rs151340626
rs151340626
CLCN5
T 0.700 GeneticVariation CLINVAR CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. 9734595

1998
dbSNP: rs151340626
rs151340626
CLCN5
T 0.700 GeneticVariation CLINVAR Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study. 16822791

2006
dbSNP: rs151340626
rs151340626
CLCN5
T 0.700 GeneticVariation CLINVAR Evidence for genetic heterogeneity in Dent's disease. 15086899

2004
dbSNP: rs151340626
rs151340626
CLCN5
T 0.700 GeneticVariation CLINVAR Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. 24081861

2014
dbSNP: rs1557192084
rs1557192084
CLCN5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557194353
rs1557194353
CLCN5
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569540047
rs1569540047
CLCN5
A 0.700 CausalMutation CLINVAR Evidence for genetic heterogeneity in Dent's disease. 15086899

2004
dbSNP: rs1569540369
rs1569540369
CLCN5
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569540382
rs1569540382
CLCN5
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044808
rs797044808
CLCN5
T 0.700 CausalMutation CLINVAR Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease. 16861240

2006
dbSNP: rs797044808
rs797044808
CLCN5
T 0.700 CausalMutation CLINVAR Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria. 24081861

2014
dbSNP: rs797044808
rs797044808
CLCN5
T 0.700 CausalMutation CLINVAR CLCN5 chloride-channel mutations in six new North American families with X-linked nephrolithiasis. 9734595

1998