COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL ×
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: rs111033319
rs111033319 		0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 1999 2005