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 | 0.080 | 8 | 24953779 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 15 | 2000 | 2016 | ||||||||
|
0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 8 | 2002 | 2016 | ||||||||
|
1.000 | 0.080 | 8 | 24955722 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2000 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 24955509 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2000 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 24953646 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2000 | 2015 | ||||||||
|
0.925 | 0.080 | 8 | 24955521 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 7 | 2000 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 24955713 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 7 | 2000 | 2015 | ||||||||
|
0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.050 | 1.000 | 5 | 2002 | 2018 | ||||||||
|
0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv |
|
0.800 | 1.000 | 4 | 2004 | 2016 | |||||||||
|
0.882 | 0.080 | 8 | 24953779 | missense variant | C/T | snv |
|
0.800 | 1.000 | 4 | 2004 | 2016 | |||||||||
|
0.925 | 0.080 | 8 | 24955515 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 24953776 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
0.925 | 0.080 | 8 | 24953776 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2003 | 2004 | ||||||||
|
0.925 | 0.080 | 8 | 24955521 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||||||
|
0.925 | 0.080 | 8 | 24956493 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2003 | 2004 | ||||||||
|
0.882 | 0.080 | 8 | 24953779 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.925 | 0.080 | 8 | 24953776 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 8 | 24953776 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 8 | 24956248 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 8 | 24956248 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 8 | 24956248 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 24956248 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |