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: rs121434475
rs121434475 		1.000 0.080 MT 9997 non coding transcript exon variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs267606613
rs267606613 		1.000 0.080 MT 9952 stop gained G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs200613617
rs200613617 		1.000 0.160 MT 9804 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.800 0
dbSNP: rs267606614
rs267606614 		0.925 0.120 MT 9531 frameshift variant -/C delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs267606614
rs267606614 		0.925 0.120 MT 9531 frameshift variant -/C delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267606612
rs267606612 		1.000 0.080 MT 9480 inframe deletion TCGCAGGATTTTTCT/- delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs267606612
rs267606612 		1.000 0.080 MT 9480 inframe deletion TCGCAGGATTTTTCT/- delins
CUI: C4017626
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA 		0.700 0
dbSNP: rs587776437
rs587776437 		1.000 0.120 MT 9478 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1569484301
rs1569484301 		1.000 0.080 MT 9441 inframe insertion -/TTT delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs267606611
rs267606611 		1.000 0.160 MT 9438 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569484300
rs1569484300 		1.000 MT 9431 frameshift variant -/A ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484299
rs1569484299 		1.000 0.080 MT 9429 protein altering variant -/CCC ins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs267606615
rs267606615 		0.925 0.080 MT 9379 stop gained G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2002 2002
dbSNP: rs267606615
rs267606615 		0.925 0.080 MT 9379 stop gained G/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1569484292
rs1569484292 		1.000 MT 9311 inframe insertion -/GCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484288
rs1569484288 		1.000 0.080 MT 9273 protein altering variant -/ATC ins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1057516064
rs1057516064 		0.925 0.120 MT 9237 missense variant G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs1057516064
rs1057516064 		0.925 0.120 MT 9237 missense variant G/A snv
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057516064
rs1057516064 		0.925 0.120 MT 9237 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs199476137
rs199476137 		1.000 MT 9204 frameshift variant TA/- delins
CUI: C4016603
Disease: SEIZURES AND LACTIC ACIDOSIS
SEIZURES AND LACTIC ACIDOSIS 		0.700 0
dbSNP: rs1556423632
rs1556423632 		1.000 0.120 MT 9191 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2005 2005
dbSNP: rs199476138
rs199476138 		0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 8 1993 2013
dbSNP: rs199476138
rs199476138 		0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs199476138
rs199476138 		0.882 0.120 MT 9185 missense variant T/C snv
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.700 0
dbSNP: rs199476138
rs199476138 		0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 0