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: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 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: 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: 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: 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: rs199476136
rs199476136 		0.925 0.120 MT 8851 missense variant T/C snv
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		Nervous System Diseases 0.700 0
dbSNP: rs28358278
rs28358278 		0.925 0.080 MT 10400 synonymous variant C/T snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2853826
rs2853826 		0.925 0.080 MT 10398 missense variant A/G snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs41467651
rs41467651 		0.925 0.080 MT 10310 synonymous variant G/A snv
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
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: 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: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 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: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs199476133
rs199476133 		0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: 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: 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: rs201336180
rs201336180 		0.925 0.200 MT 8684 missense variant C/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 0.010 1.000 1 2008 2008
dbSNP: rs193302933
rs193302933 		1.000 0.160 MT 10664 synonymous variant C/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 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: 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: rs28358887
rs28358887 		1.000 0.080 MT 8994 synonymous variant G/A snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014