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: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 1.000 8 2003 2009
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: 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: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 2 1991 1993
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
1.000 0.200 MT 5591 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 2 2006 2009
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: rs387906422
rs387906422
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
0.925 0.040 MT 8528 start lost T/C snv
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		0.700 1.000 2 2009 2016
dbSNP: rs1057516062
rs1057516062
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1.000 0.080 MT 8418 missense variant T/C snv
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.700 1.000 1 2017 2017
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1991 1991
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1992 1992
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1996 1996
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2000 2000
dbSNP: rs118192104
rs118192104
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
1.000 0.160 MT 8361 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 1.000 1 2003 2003
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: 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: 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: rs786200950
rs786200950
COX1 ; COX2 ; ND2 ; TRNA
MT 5631 non coding transcript exon variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 1.000 1 2015 2015
dbSNP: rs786200951
rs786200951
COX1 ; COX2 ; ND2 ; TRNA
MT 5610 non coding transcript exon variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 1.000 1 2015 2015
dbSNP: rs1131692064
rs1131692064
ATP6 ; ATP8 ; COX2 ; COX3
MT 7989 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C1838867
Disease: PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, MITOCHONDRIAL (disorder) 		0.700 0
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 0