Source: CLINVAR

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: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 1.000 4 1994 2008
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1994 1994
dbSNP: rs1569484164
rs1569484164
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7638 frameshift variant A/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484165
rs1569484165
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 MT 7661 protein altering variant -/CCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484166
rs1569484166
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 MT 7668 inframe insertion -/CAC delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484169
rs1569484169
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7680 protein altering variant -/GTC ins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484177
rs1569484177
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7789 inframe insertion -/TCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484178
rs1569484178
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
MT 7814 protein altering variant -/CCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 0
dbSNP: rs199474825
rs199474825
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7587 start lost T/C snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7671 missense variant T/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 0 1999 1999
dbSNP: rs199474829
rs199474829
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7896 stop gained G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs267606884
rs267606884
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7275 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 0 2006 2009
dbSNP: rs397507452
rs397507452
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.120 MT 7443 stop lost A/G snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 0
dbSNP: rs121434454
rs121434454
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRND
1.000 MT 7526 non coding transcript exon variant A/G snv
CUI: C4016606
Disease: MITOCHONDRIAL MYOPATHY, ISOLATED
MITOCHONDRIAL MYOPATHY, ISOLATED 		0.700 0
dbSNP: rs387906419
rs387906419
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.925 0.200 MT 7497 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 4 1998 2010
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: rs199474820
rs199474820
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
1.000 0.120 MT 7510 non coding transcript exon variant T/C snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 1.000 2 2000 2002
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: rs1569484151
rs1569484151
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
1.000 0.120 MT 7462 non coding transcript exon variant C/T snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 1.000 1 2010 2010
dbSNP: rs199474817
rs199474817
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.882 0.200 MT 7512 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1995 1995
dbSNP: rs199474821
rs199474821
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.925 0.280 MT 7511 non coding transcript exon variant T/C snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 1.000 1 1999 1999
dbSNP: rs199474821
rs199474821
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
0.925 0.280 MT 7511 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1999 1999
dbSNP: rs724159989
rs724159989
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
1.000 0.120 MT 7505 non coding transcript exon variant T/C snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		0.700 1.000 1 2010 2010
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