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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 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 | ||||||||
|
0.925 | 0.120 | 19 | 6495271 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 6495318 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 19 | 6495327 | 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 | ||||||||
|
0.882 | 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 | ||||||||
|
0.882 | 0.120 | 19 | 6495335 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 19 | 6495335 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 19 | 6495335 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 19 | 6495335 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 19 | 6495335 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 19 | 6495335 | missense variant | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 19 | 6495336 | missense variant | A/G | 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 | 6495337 | missense variant | T/C | 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 | 6495400 | missense variant | A/G;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 | 6495408 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
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 |