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 | X | 154030666 | missense variant | G/A;C | snv | 5.8E-06; 7.5E-05; 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 21 | 1999 | 2017 | |||||||
|
1.000 | 0.080 | X | 154032286 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 20 | 1999 | 2017 | ||||||||
|
0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.730 | 1.000 | 20 | 1975 | 2013 | |||||||
|
1.000 | 0.080 | X | 154030863 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 20 | 1999 | 2017 | ||||||||
|
X | 154031215 | frameshift variant | -/T | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||||
|
X | 154032272 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||||
|
X | 154032272 | missense variant | C/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||
|
0.882 | 0.080 | X | 154031405 | stop gained | G/C;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||
|
1.000 | 0.080 | X | 154031217 | stop gained | G/A;C | snv | 5.4E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||||
|
0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 |
|
0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||
|
0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||||
|
0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||||
|
0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 19 | 1993 | 2016 | |||||||||
|
0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||
|
0.925 | 0.080 | X | 154030911 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 19 | 1993 | 2016 | |||||||||
|
0.925 | 0.080 | X | 154030911 | missense variant | C/A;G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 19 | 1993 | 2016 | ||||||||
|
0.882 | 0.080 | X | 154030903 | missense variant | G/A | snv |
|
0.700 | 1.000 | 19 | 1993 | 2016 | |||||||||
|
0.807 | 0.120 | X | 154030621 | splice acceptor variant | TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- | delins |
|
0.700 | 1.000 | 19 | 1993 | 2016 | |||||||||
|
0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 11 | 2000 | 2011 | ||||||||
|
0.776 | 0.200 | X | 154031431 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 11 | 2000 | 2016 | ||||||||
|
0.925 | 0.080 | X | 154031427 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 11 | 2000 | 2015 | ||||||||
|
0.807 | 0.080 | X | 154031022 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 11 | 1999 | 2012 | ||||||||
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 10 | 2000 | 2007 |