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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 |
|
Behavior and Behavior Mechanisms | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 7 | 70619708 | intron variant | A/C;G | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 7 | 70547533 | intron variant | G/A | snv | 0.28 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 70580955 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 70133342 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 70623670 | intron variant | C/T | snv | 0.10 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 7 | 70142523 | intron variant | C/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 70422099 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 70422099 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 70487201 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 7 | 70620423 | intron variant | C/G | snv | 0.48 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
7 | 70511251 | intron variant | G/A | snv | 8.2E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
7 | 70300519 | intron variant | A/G | snv | 0.11 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
7 | 70483255 | intron variant | A/G | snv | 0.41 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
7 | 69911737 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 7 | 70231757 | intron variant | GTTTGTTT/-;GTTT;GTTTGTTTGTTT | delins |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 70242637 | intron variant | A/G | snv | 0.34 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 7 | 70619903 | intron variant | A/G | snv | 0.84 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
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 |