CLCNKB, chloride voltage-gated channel Kb, 1188

N. diseases: 139; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909132
rs121909132
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		0.810 GeneticVariation BEFREE We report an adult woman with atypical BS caused by a homozygous missense mutation, A204T, in the CLCNKB gene, which has previously been described as the apparently unique cause of cBS in Spain. 16391491 2006
dbSNP: rs121909132
rs121909132
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		0.810 GeneticVariation UNIPROT Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 9326936 1997
dbSNP: rs121909132
rs121909132
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		A 0.810 CausalMutation CLINVAR
dbSNP: rs121909131
rs121909131
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		0.800 GeneticVariation UNIPROT Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 9326936 1997
dbSNP: rs121909133
rs121909133
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		0.800 GeneticVariation UNIPROT Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 9326936 1997
dbSNP: rs121909134
rs121909134
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		0.800 GeneticVariation UNIPROT Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 9326936 1997
dbSNP: rs121909135
rs121909135
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		0.800 GeneticVariation UNIPROT Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 9326936 1997
dbSNP: rs121909131
rs121909131
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909133
rs121909133
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121909134
rs121909134
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121909135
rs121909135
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs2007471
rs2007471
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs140307022
rs140307022
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		AGCTCT 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1057516207
rs1057516207
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1191726071
rs1191726071
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C4310923
Disease:
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909136
rs121909136
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846344
Disease:
Bartter Syndrome, Type 3, with Hypocalciuria 		A 0.700 CausalMutation CLINVAR
dbSNP: rs370221310
rs370221310
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs554794449
rs554794449
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846344
Disease:
Bartter Syndrome, Type 3, with Hypocalciuria 		C 0.700 CausalMutation CLINVAR
dbSNP: rs779593707
rs779593707
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0018965
Disease:
Hematuria 		CAATA 0.700 GeneticVariation CLINVAR
dbSNP: rs779593707
rs779593707
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0033687
Disease:
Proteinuria 		CAATA 0.700 GeneticVariation CLINVAR
dbSNP: rs863224858
rs863224858
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1846343
Disease:
Bartter syndrome, type 3 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs953686324
rs953686324
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0151747
Disease:
Renal tubular disorder 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs953686324
rs953686324
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0020456
Disease:
Hyperglycemia 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs953686324
rs953686324
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C1838391
Disease:
Limb hypertonia 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs953686324
rs953686324
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
CUI: C0020295
Disease:
Hydronephrosis 		TG 0.700 CausalMutation CLINVAR