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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 21 | 43776260 | missense variant | C/A;G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.810 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 11 | 1996 | 2016 | ||||||
|
1.000 | 0.080 | 21 | 43776204 | splice region variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 8 | 2002 | 2017 | ||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
0.700 | 1.000 | 8 | 2002 | 2017 | |||||||
|
0.882 | 0.080 | 21 | 43774690 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 8 | 2002 | 2017 | ||||||
|
0.882 | 0.080 | 21 | 43774690 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 8 | 2002 | 2017 | |||||||
|
0.882 | 0.080 | 21 | 43774280 | frameshift variant | GA/- | delins | 2.0E-05 | 5.6E-05 |
|
0.700 | 1.000 | 8 | 2002 | 2017 | |||||||
|
0.882 | 0.080 | 21 | 43774280 | frameshift variant | GA/- | delins | 2.0E-05 | 5.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 8 | 2002 | 2017 | ||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
Nervous System Diseases | 0.700 | 1.000 | 6 | 1996 | 2012 | ||||||
|
0.882 | 0.080 | 21 | 43774280 | frameshift variant | GA/- | delins | 2.0E-05 | 5.6E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 5 | 1997 | 2008 | ||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 1996 | 2012 | ||||||
|
0.882 | 0.080 | 21 | 43774690 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 3 | 1996 | 2016 | ||||||
|
1.000 | 0.080 | 21 | 43774658 | splice region variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.080 | 21 | 43774287 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | 0.700 | 0 | |||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 21 | 43776206 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 21 | 43774639 | splice donor variant | GAGGCCCACACTCTACCT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |