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 | 0.120 | MT | 9185 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 8 | 1993 | 2013 | ||||||||
|
0.882 | 0.120 | MT | 9176 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 11 | 1993 | 2007 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 1990 | 2007 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
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 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 2 | 2005 | 2007 | ||||||||
|
0.742 | 0.320 | MT | 8993 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2005 | 2007 | |||||||||
|
1.000 | 0.080 | MT | 7275 | missense variant | T/C | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 2 | 2006 | 2009 | ||||||||
|
1.000 | 0.080 | MT | 7671 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.882 | 0.120 | MT | 9176 | missense variant | T/C;G | snv |
|
Nervous System Diseases | 0.800 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.925 | 0.040 | MT | 8528 | start lost | T/C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | MT | 8009 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 0 | |||||||||||
|
0.925 | 0.200 | MT | 8969 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
0.851 | 0.200 | MT | 8344 | non coding transcript exon variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 8 | 2003 | 2009 | ||||||||
|
0.882 | 0.320 | MT | 7445 | stop lost | A/C;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 4 | 1994 | 2008 | ||||||||
|
0.925 | 0.120 | MT | 8851 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1995 | 2013 | ||||||||
|
0.925 | 0.200 | MT | 7497 | 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 | 4 | 1998 | 2010 | ||||||||
|
0.925 | 0.200 | MT | 8969 | missense 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 | 3 | 2014 | 2018 | ||||||||
|
0.851 | 0.280 | MT | 7466 | non coding transcript exon variant | C/-;CC | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 1999 | 2005 | ||||||||
|
0.851 | 0.200 | MT | 8344 | non coding transcript exon variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 1991 | 1993 | ||||||||
|
1.000 | 0.120 | MT | 7510 | non coding transcript exon variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 2 | 2000 | 2002 | ||||||||
|
0.925 | 0.040 | MT | 8528 | start lost | T/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
1.000 | 0.080 | MT | 8418 | missense variant | T/C | snv |
|
Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | MT | 9237 | missense variant | G/A | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | MT | 9237 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | MT | 9237 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 |