COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
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: rs869025575
rs869025575 		1.000 0.080 11 63976224 splice acceptor variant G/C snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs528113495
rs528113495 		1.000 0.080 11 63974773 synonymous variant G/A;T snv 2.3E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2007 2007