COX5B, cytochrome c oxidase subunit 5B, 1329

N. diseases: 26; N. variants: 1
Disease: Mitochondrial Myopathies ×
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: rs746686166
rs746686166 		0.925 0.280 2 97646179 missense variant G/A;T snv 6.7E-06
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008