Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
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 		0.700 1.000 2 1999 2005
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1995 1995
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C4016626
Disease: MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY 		0.700 0
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C3151975
Disease: DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES 		0.700 0