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: rs199476118
rs199476118 		0.925 0.160 MT 3460 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 0.810 1.000 7 1991 2012
dbSNP: rs199476119
rs199476119 		1.000 0.160 MT 4160 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 0.800 1.000 6 1991 1992
dbSNP: rs41460449
rs41460449 		1.000 0.160 MT 3394 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 0.800 1.000 6 1991 1992
dbSNP: rs28616230
rs28616230 		1.000 0.160 MT 4171 missense variant C/A;T 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 5 2002 2014
dbSNP: rs199476122
rs199476122 		0.882 0.280 MT 3697 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 4 2004 2014
dbSNP: rs199476123
rs199476123 		0.882 0.200 MT 3946 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 4 2004 2011
dbSNP: rs199476144
rs199476144 		0.925 0.200 MT 1624 non coding transcript exon variant C/T 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 4 2002 2015
dbSNP: rs397515507
rs397515507 		1.000 0.160 MT 3635 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 1.000 4 2001 2014
dbSNP: rs193303018
rs193303018 		1.000 0.200 MT 3242 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 3 2005 2012
dbSNP: rs199476143
rs199476143 		0.925 0.200 MT 1606 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 3 1998 2010
dbSNP: rs587776433
rs587776433 		0.925 0.200 MT 3481 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 2007 2009
dbSNP: rs199474657
rs199474657 		0.752 0.360 MT 3243 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 1.000 2 2001 2004
dbSNP: rs199474658
rs199474658 		0.925 0.200 MT 3271 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 2 1991 1993
dbSNP: rs199474659
rs199474659 		0.882 0.200 MT 3256 non coding transcript exon variant C/T 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 2 1993 1994
dbSNP: rs199474660
rs199474660 		0.925 0.200 MT 3303 non coding transcript exon variant C/T 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 2 1994 1999
dbSNP: rs199474662
rs199474662 		0.925 0.200 MT 3251 non coding transcript exon variant A/G 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 2 1993 1996
dbSNP: rs199474663
rs199474663 		0.925 0.200 MT 3260 non coding transcript exon variant A/G 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 2 1993 1994
dbSNP: rs199474666
rs199474666 		0.925 0.200 MT 3274 non coding transcript exon variant A/G 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 2 2001 2006
dbSNP: rs121434468
rs121434468 		0.925 0.200 MT 4284 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 2002 2002
dbSNP: rs199474657
rs199474657 		0.752 0.360 MT 3243 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 1 1999 1999
dbSNP: rs199474657
rs199474657 		0.752 0.360 MT 3243 non coding transcript exon variant A/G 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 2001 2001
dbSNP: rs199474661
rs199474661 		0.925 0.200 MT 3252 non coding transcript exon variant A/G 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 1993 1993
dbSNP: rs199476118
rs199476118 		0.925 0.160 MT 3460 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 2002 2002
dbSNP: rs199476120
rs199476120 		1.000 MT 3397 missense variant A/G snv
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		0.700 1.000 1 1993 1993
dbSNP: rs199476144
rs199476144 		0.925 0.200 MT 1624 non coding transcript exon variant C/T 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 2002 2002