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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 19 | 6502209 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.120 | 19 | 6495754 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 4 | 2013 | 2014 | ||||||||
|
1.000 | 0.120 | 19 | 6496032 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 20 | 2002 | 2017 | ||||||||
|
1.000 | 0.120 | 19 | 6496032 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 20 | 2002 | 2017 | ||||||||
|
1.000 | 0.120 | 19 | 6495714 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 20 | 2002 | 2017 | ||||||||
|
1.000 | 0.120 | 19 | 6495714 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2014 | 2018 | ||||||||
|
0.807 | 0.240 | 19 | 6502209 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
1.000 | 0.120 | 19 | 6502208 | missense variant | C/G;T | snv | 5.7E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 19 | 6495966 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.120 | 19 | 6495736 | missense variant | C/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||||
|
0.882 | 0.120 | 19 | 6495335 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
1.000 | 0.120 | 19 | 6495783 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 19 | 6495768 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.120 | 19 | 6495271 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 19 | 6496032 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 |