CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Hyperkalemia ×
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: rs1557194090
rs1557194090 		1.000 X 50086864 frameshift variant C/- del
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		Nutritional and Metabolic Diseases 0.700 0