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: rs118192099
rs118192099 		0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1992 1992
dbSNP: rs118192100
rs118192100 		0.882 0.200 MT 8363 non coding transcript exon variant G/A 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 2000 2000
dbSNP: rs118192100
rs118192100 		0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1996 1996
dbSNP: rs118192104
rs118192104 		1.000 0.160 MT 8361 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2003 2003
dbSNP: rs1556423547
rs1556423547 		1.000 0.120 MT 8839 missense variant G/A;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 2013 2013
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: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs199476134
rs199476134 		1.000 0.160 MT 9101 missense variant T/C 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 1.000 1 1995 1995
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: 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: 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: 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: rs587776438
rs587776438 		1.000 0.120 MT 10254 missense variant G/A 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 2010 2010
dbSNP: rs587776444
rs587776444 		1.000 0.120 MT 8989 missense variant G/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 2013 2013
dbSNP: rs587780529
rs587780529 		1.000 0.120 MT 10134 missense variant C/A 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 2014 2014
dbSNP: rs118192098
rs118192098 		0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118192098
rs118192098 		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) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192099
rs118192099 		0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192099
rs118192099 		0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		0.700 0
dbSNP: rs118192100
rs118192100 		0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192100
rs118192100 		0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C4016620
Disease: CARDIOMYOPATHY AND DEAFNESS
CARDIOMYOPATHY AND DEAFNESS 		0.700 0
dbSNP: rs118192101
rs118192101 		1.000 MT 8313 non coding transcript exon variant G/A snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs118192103
rs118192103 		1.000 MT 8342 non coding transcript exon variant G/A snv
CUI: C4016622
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS 		0.700 0
dbSNP: rs121434456
rs121434456 		1.000 0.120 MT 10438 non coding transcript exon variant A/G snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
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