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: 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: rs199476135
rs199476135 		0.882 0.120 MT 9176 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1993 2007
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 10 1990 2007
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1990 1994
dbSNP: rs199476117
rs199476117 		0.925 0.120 MT 10158 missense variant T/C snv
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 1.000 3 2001 2010
dbSNP: rs267606890
rs267606890 		0.925 0.120 MT 10191 missense variant T/C snv
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 1.000 3 2001 2010
dbSNP: rs267606891
rs267606891 		0.882 0.200 MT 10197 missense variant G/A snv
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 1.000 3 2001 2010
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C1838916
Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 2005 2007
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 1.000 2 2005 2007
dbSNP: rs267606891
rs267606891 		0.882 0.200 MT 10197 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 0.800 1.000 2 2007 2009
dbSNP: rs199476135
rs199476135 		0.882 0.120 MT 9176 missense variant T/C;G snv
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		Nervous System Diseases 0.800 1.000 1 1995 1995
dbSNP: rs387906422
rs387906422 		0.925 0.040 MT 8528 start lost T/C snv
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		0.800 1.000 1 2009 2009
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: rs267606892
rs267606892 		1.000 0.080 MT 10563 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 0
dbSNP: rs794726857
rs794726857 		0.925 0.200 MT 8969 missense variant G/A snv
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		0.800 0
dbSNP: rs267606890
rs267606890 		0.925 0.120 MT 10191 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 0.710 1.000 7 2001 2019
dbSNP: rs118192098
rs118192098 		0.851 0.200 MT 8344 non coding transcript exon variant A/G 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 8 2003 2009
dbSNP: rs199476117
rs199476117 		0.925 0.120 MT 10158 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 4 2003 2005
dbSNP: rs199476136
rs199476136 		0.925 0.120 MT 8851 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 4 1995 2013
dbSNP: rs794726857
rs794726857 		0.925 0.200 MT 8969 missense 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 3 2014 2018
dbSNP: rs118192098
rs118192098 		0.851 0.200 MT 8344 non coding transcript exon variant A/G 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 2 1991 1993
dbSNP: rs1556423844
rs1556423844 		1.000 0.160 MT 10663 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 2 1995 2002
dbSNP: rs387906422
rs387906422 		0.925 0.040 MT 8528 start lost T/C snv
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2009 2016
dbSNP: rs1057516062
rs1057516062 		1.000 0.080 MT 8418 missense variant T/C snv
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		Eye 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: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.700 1.000 1 2017 2017