COX3, cytochrome c oxidase III, 4514

N. diseases: 195; N. variants: 75
Disease: Mitochondrial encephalopathy ×
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: rs1057516064
rs1057516064 		0.925 0.120 MT 9237 missense variant G/A snv
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017