CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553853557
rs1553853557 		0.882 0.040 3 184346710 missense variant T/G snv
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		Endocrine System Diseases 0.800 1.000 2 2018 2018
dbSNP: rs1553857113
rs1553857113 		0.882 0.040 3 184359119 missense variant A/T snv
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		Endocrine System Diseases 0.800 1.000 2 2018 2018
dbSNP: rs1085307938
rs1085307938 		0.925 0.040 3 184359124 missense variant C/T snv
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1085307938
rs1085307938 		0.925 0.040 3 184359124 missense variant C/T snv
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		Endocrine System Diseases 0.800 1.000 1 2018 2018
dbSNP: rs1293789661
rs1293789661 		0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		Endocrine System Diseases 0.710 1.000 1 2018 2018
dbSNP: rs1293789661
rs1293789661 		0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		Endocrine System Diseases 0.810 1.000 1 2019 2019
dbSNP: rs515726131
rs515726131 		1.000 3 184357979 frameshift variant -/C delins
CUI: C3810242
Disease: LEUKOENCEPHALOPATHY WITH ATAXIA
LEUKOENCEPHALOPATHY WITH ATAXIA 		0.700 1.000 1 2003 2003
dbSNP: rs587777110
rs587777110 		1.000 3 184358228 inframe deletion TGAGGA/- delins
CUI: C3810242
Disease: LEUKOENCEPHALOPATHY WITH ATAXIA
LEUKOENCEPHALOPATHY WITH ATAXIA 		0.700 1.000 1 2013 2013
dbSNP: rs587777112
rs587777112 		1.000 3 184357431 frameshift variant -/C delins
CUI: C3810242
Disease: LEUKOENCEPHALOPATHY WITH ATAXIA
LEUKOENCEPHALOPATHY WITH ATAXIA 		0.700 1.000 1 2013 2013
dbSNP: rs73189617
rs73189617 		3 184351338 intron variant C/A;G snv 0.20
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs863225251
rs863225251 		1.000 3 184355751 frameshift variant G/ATGAGCAGT delins
CUI: C3810242
Disease: LEUKOENCEPHALOPATHY WITH ATAXIA
LEUKOENCEPHALOPATHY WITH ATAXIA 		0.700 1.000 1 2015 2015
dbSNP: rs1293789661
rs1293789661 		0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
dbSNP: rs1293789661
rs1293789661 		0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1293789661
rs1293789661 		0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06
CUI: C4023208
Disease: Glucocortocoid-insensitive primary hyperaldosteronism
Glucocortocoid-insensitive primary hyperaldosteronism 		Endocrine System Diseases 0.700 0
dbSNP: rs1293789661
rs1293789661 		0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06
CUI: C0020621
Disease: Hypokalemia
Hypokalemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1293789661
rs1293789661 		0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06
CUI: C4021038
Disease: Abnormal circulating renin
Abnormal circulating renin 		0.700 0
dbSNP: rs1553853557
rs1553853557 		0.882 0.040 3 184346710 missense variant T/G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553853557
rs1553853557 		0.882 0.040 3 184346710 missense variant T/G snv
CUI: C4023208
Disease: Glucocortocoid-insensitive primary hyperaldosteronism
Glucocortocoid-insensitive primary hyperaldosteronism 		Endocrine System Diseases 0.700 0
dbSNP: rs1553853557
rs1553853557 		0.882 0.040 3 184346710 missense variant T/G snv
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		Endocrine System Diseases 0.700 0
dbSNP: rs1553856214
rs1553856214 		0.882 0.040 3 184356994 stop gained T/A snv
CUI: C0020621
Disease: Hypokalemia
Hypokalemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553856214
rs1553856214 		0.882 0.040 3 184356994 stop gained T/A snv
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		Endocrine System Diseases 0.700 0
dbSNP: rs1553856214
rs1553856214 		0.882 0.040 3 184356994 stop gained T/A snv
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		Endocrine System Diseases 0.700 0
dbSNP: rs1553856214
rs1553856214 		0.882 0.040 3 184356994 stop gained T/A snv
CUI: C4023208
Disease: Glucocortocoid-insensitive primary hyperaldosteronism
Glucocortocoid-insensitive primary hyperaldosteronism 		Endocrine System Diseases 0.700 0
dbSNP: rs1553856214
rs1553856214 		0.882 0.040 3 184356994 stop gained T/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553857113
rs1553857113 		0.882 0.040 3 184359119 missense variant A/T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0