COX5B, cytochrome c oxidase subunit 5B, 1329

N. diseases: 26; N. variants: 1
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
dbSNP: rs746686166
rs746686166 		0.925 0.280 2 97646179 missense variant G/A;T snv 6.7E-06
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs746686166
rs746686166 		0.925 0.280 2 97646179 missense variant G/A;T snv 6.7E-06
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.010 1.000 1 2008 2008
dbSNP: rs746686166
rs746686166 		0.925 0.280 2 97646179 missense variant G/A;T snv 6.7E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008