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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.200 | MT | 8363 | non coding transcript exon variant | G/A | snv |
|
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 | ||||||||
|
1.000 | 0.160 | MT | 8361 | non coding transcript exon variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | 0.120 | MT | 8839 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.120 | MT | 9191 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.160 | MT | 9101 | 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 | 1 | 1995 | 1995 | ||||||||
|
0.882 | 0.120 | MT | 9176 | missense variant | T/C;G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.882 | 0.120 | MT | 9185 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.200 | MT | 8684 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.200 | MT | 8684 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.120 | MT | 9531 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.080 | MT | 9379 | stop gained | G/A | snv |
|
0.700 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
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 | 0.080 | MT | 8994 | synonymous variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
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 | 0.040 | MT | 8528 | start lost | T/C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
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 | ||||||||
|
1.000 | 0.120 | MT | 9478 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |