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 | 153812108 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 4 | 2012 | 2016 | |||||||||||
|
1 | 153812108 | stop gained | G/A;C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 4 | 2012 | 2016 | ||||||||||
|
1 | 153824539 | intron variant | G/A | snv | 0.25 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.160 | 1 | 153816571 | frameshift variant | A/- | delins |
|
Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 153875494 | intron variant | A/C | snv | 2.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 153825652 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 153855604 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 153850197 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 153843573 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 1 | 153818075 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153813428 | missense variant | C/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153828267 | frameshift variant | -/CATCA | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153818833 | frameshift variant | CTTT/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153811842 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153812123 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153812126 | stop gained | C/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153818853 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 1 | 153813258 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | |||||||||||
|
0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv |
|
Eye Diseases; Nervous System Diseases | 0.700 | 0 |