CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Disease: Dent's disease ×
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: rs151340626
rs151340626 		0.827 0.200 X 50085987 missense variant C/T snv
CUI: C0878681
Disease: Dent's disease
Dent's disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 1998 1998