| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
MT | 10010 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | MT | 10134 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | MT | 10158 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2003 | 2005 | ||||||||
|
0.925 | 0.120 | MT | 10158 | missense variant | T/C | snv |
|
0.800 | 1.000 | 3 | 2001 | 2010 | |||||||||
|
0.925 | 0.120 | MT | 10191 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 7 | 2001 | 2019 | ||||||||
|
0.925 | 0.120 | MT | 10191 | missense variant | T/C | snv |
|
0.800 | 1.000 | 3 | 2001 | 2010 | |||||||||
|
0.882 | 0.200 | MT | 10197 | missense variant | G/A | snv |
|
0.800 | 1.000 | 3 | 2001 | 2010 | |||||||||
|
0.882 | 0.200 | MT | 10197 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.882 | 0.200 | MT | 10197 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | MT | 10254 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | MT | 10310 | synonymous variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | MT | 10310 | synonymous variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | MT | 10398 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | MT | 10398 | missense variant | A/G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | MT | 10400 | synonymous variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | MT | 10400 | synonymous variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | MT | 10438 | non coding transcript exon variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | MT | 10450 | non coding transcript exon variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | MT | 10563 | missense variant | T/C | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 0 | |||||||||||
|
1.000 | 0.160 | MT | 10663 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 1995 | 2002 | ||||||||
|
1.000 | 0.160 | MT | 10664 | synonymous variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | MT | 11084 | missense variant | A/G | snv |
|
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 | ||||||||
|
MT | 11467 | synonymous variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.200 | MT | 11696 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
1.000 | 0.040 | MT | 11719 | synonymous variant | G/A | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |