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 | 0.080 | 11 | 66685935 | missense variant | C/T | snv | 1.0E-04 | 1.2E-04 |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 11 | 66685935 | missense variant | C/T | snv | 1.0E-04 | 1.2E-04 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 66685935 | missense variant | C/T | snv | 1.0E-04 | 1.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 11 | 66685935 | missense variant | C/T | snv | 1.0E-04 | 1.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
11 | 66705361 | stop gained | C/A;T | snv | 8.2E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 8 | 2006 | 2017 | |||||||||
|
11 | 66708251 | missense variant | G/A | snv | 4.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
11 | 66708251 | missense variant | G/A | snv | 4.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 11 | 66705395 | stop gained | G/A;T | snv | 4.1E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 66713645 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.840 | 1.000 | 7 | 2006 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 66707731 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 3 | 2006 | 2013 | ||||||||
|
1.000 | 0.080 | 11 | 66707731 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 11 | 66705399 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 66708181 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 11 | 66701231 | frameshift variant | GTGAG/-;GTGAGGTGAG | delins |
|
0.700 | 0 | |||||||||||||
|
11 | 66715958 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 11 | 66715235 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |