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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
X | 18604030 | frameshift variant | AAACCTTGCTGGAG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 17 | 2004 | 2016 | ||||||||||
|
X | 18653446 | missense variant | G/A;T | snv | 8.5E-03; 5.5E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
X | 18579749 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Digestive System Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 6 | 2008 | 2017 | ||||||||
|
0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 |