COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Disease: Leigh Disease ×
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: rs118192100
rs118192100 		0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000