AUTS2, activator of transcription and developmental regulator AUTS2, 26053
N. diseases: 149; N. variants: 57
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 70623923 | intron variant | A/C | snv | 0.44 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 70303840 | intron variant | T/G | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 70437166 | non coding transcript exon variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 70531385 | intron variant | A/C;G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 70248480 | intron variant | A/T | snv | 0.22 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 7 | 70625866 | intron variant | T/C | snv | 0.87 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 70625548 | intron variant | G/A | snv | 0.87 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 70625420 | intron variant | G/A | snv | 0.91 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 70304383 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 7 | 69596980 | intron variant | C/G;T | snv |
|
Chemically-Induced Disorders; Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
7 | 69685863 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 69853209 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 70506034 | intron variant | T/G | snv | 0.30 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
7 | 70528356 | intron variant | G/A;C;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 70492039 | intron variant | A/G;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 70602329 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.040 | 7 | 70623127 | intron variant | C/G;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 70573983 | intron variant | G/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 70629634 | intron variant | C/T | snv | 0.33 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 69753351 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |