CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: Mitochondrial Encephalomyopathies ×
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: rs207459999
rs207459999 		0.925 0.160 MT 15242 stop gained G/A snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0