COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
Disease: Kearns-Sayre syndrome ×
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: rs118203892
rs118203892 		1.000 0.240 MT 5885 non coding transcript exon variant T/- delins
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0