CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
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: rs151340624
rs151340624
0.851 0.120 X 50090846 stop gained C/T snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1999 1999
dbSNP: rs151340627
rs151340627
0.882 0.160 X 50086551 stop gained G/A snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998