CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
Disease: Hyperaldosteronism, Familial, Type II ×
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: 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: 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: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		Endocrine System Diseases 0.800 1.000 1 2018 2018
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: rs758379595
rs758379595 		0.882 0.040 3 184359130 missense variant A/G;T snv 4.0E-06
CUI: C1854107
Disease: Hyperaldosteronism, Familial, Type II
Hyperaldosteronism, Familial, Type II 		Endocrine System Diseases 0.700 0