COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569484151
rs1569484151
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		T 0.700 CausalMutation CLINVAR Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. 20722495 2010