CLCN7, chloride voltage-gated channel 7, 1186

N. diseases: 135; N. variants: 25
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT ×
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: rs1057517718
rs1057517718 		0.882 0.160 16 1447498 missense variant T/C snv
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019