COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
Disease: Kearns-Sayre syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203892
rs118203892
Entrez Id: 4512;4513;4536;4579
Gene Symbol: COX1;COX2;ND2;TRNY
COX1;COX2;ND2;TRNY
CUI: C0022541
Disease:
Kearns-Sayre syndrome 		A 0.700 CausalMutation CLINVAR