CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II
0.810 GeneticVariation UNIPROT
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II
T 0.810 CausalMutation CLINVAR
dbSNP: rs1085307938
rs1085307938
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II
0.800 GeneticVariation UNIPROT
dbSNP: rs137852682
rs137852682
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C2750893
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs1553853557
rs1553853557
Entrez Id: 1181;131408
Gene Symbol: CLCN2;FAM131A
CLCN2;FAM131A
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II
G 0.800 CausalMutation CLINVAR
dbSNP: rs1553857113
rs1553857113
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II
T 0.800 CausalMutation CLINVAR
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1384514
Disease:
Conn Syndrome
T 0.710 CausalMutation CLINVAR
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0020621
Disease:
Hypokalemia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0220983
Disease:
Metabolic alkalosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C4021038
Disease:
Abnormal circulating renin
T 0.700 CausalMutation CLINVAR
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C4023208
Disease:
Glucocortocoid-insensitive primary hyperaldosteronism
T 0.700 CausalMutation CLINVAR
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0020538
Disease:
Hypertensive disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553853557
rs1553853557
Entrez Id: 1181;131408
Gene Symbol: CLCN2;FAM131A
CLCN2;FAM131A
CUI: C4023208
Disease:
Glucocortocoid-insensitive primary hyperaldosteronism
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553853557
rs1553853557
Entrez Id: 1181;131408
Gene Symbol: CLCN2;FAM131A
CLCN2;FAM131A
CUI: C1384514
Disease:
Conn Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553853557
rs1553853557
Entrez Id: 1181;131408
Gene Symbol: CLCN2;FAM131A
CLCN2;FAM131A
CUI: C0020538
Disease:
Hypertensive disease
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553856214
rs1553856214
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0020621
Disease:
Hypokalemia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553856214
rs1553856214
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0020538
Disease:
Hypertensive disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553856214
rs1553856214
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C4023208
Disease:
Glucocortocoid-insensitive primary hyperaldosteronism
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553856214
rs1553856214
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1384514
Disease:
Conn Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553856214
rs1553856214
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553857113
rs1553857113
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1384514
Disease:
Conn Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553857113
rs1553857113
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C4023208
Disease:
Glucocortocoid-insensitive primary hyperaldosteronism
T 0.700 CausalMutation CLINVAR
dbSNP: rs1553857113
rs1553857113
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0020538
Disease:
Hypertensive disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs376823689
rs376823689
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA
A 0.700 CausalMutation CLINVAR
dbSNP: rs532632165
rs532632165
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA
G 0.700 CausalMutation CLINVAR