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 | 0.040 | 18 | 53157428 | frameshift variant | -/AGCC | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 18 | 52906200 | frameshift variant | -/G | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 18 | 53402823 | frameshift variant | -/GGAAG | delins |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 18 | 53530928 | 3 prime UTR variant | A/C | snv | 0.84 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
18 | 52525714 | intron variant | A/C | snv | 2.1E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
18 | 53169534 | intron variant | A/C | snv | 0.38 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
18 | 52469766 | intron variant | A/C;G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 18 | 53434318 | intron variant | A/C;G | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 53434318 | intron variant | A/C;G | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 53185406 | intron variant | A/C;G | snv | 0.58 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 18 | 53305732 | intron variant | A/G | snv | 0.31 | 0.30 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
18 | 53304806 | intron variant | A/G | snv | 0.58 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
18 | 53380757 | intron variant | A/G | snv | 0.30 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 18 | 53223855 | intron variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 18 | 53223855 | intron variant | A/G | snv | 0.33 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 18 | 53305732 | intron variant | A/G | snv | 0.31 | 0.30 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.040 | 18 | 52943172 | intron variant | A/G | snv | 6.0E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 18 | 52943172 | intron variant | A/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 18 | 53020735 | intron variant | A/G | snv | 0.75 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
18 | 53227723 | intron variant | A/G | snv | 0.30 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 18 | 52992904 | intron variant | A/G | snv | 0.76 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 18 | 52992904 | intron variant | A/G | snv | 0.76 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 18 | 52992904 | intron variant | A/G | snv | 0.76 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 |