CLCNKB, chloride voltage-gated channel Kb, 1188

N. diseases: 139; N. variants: 24
Disease: Bartter 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: rs121909132
rs121909132 		0.882 0.160 1 16048537 missense variant G/A snv 7.6E-05 6.3E-05
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2013 2017