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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 36 | 1989 | 2018 | |||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 36 | 1989 | 2018 | |||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
0.700 | 1.000 | 36 | 1989 | 2018 | ||||||||
|
1.000 | 0.160 | 2 | 25240312 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 36 | 1989 | 2018 | ||||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Neoplasms | 0.800 | 1.000 | 21 | 2010 | 2019 | |||||||
|
0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 |
|
Neoplasms | 0.710 | 1.000 | 9 | 2010 | 2016 | |||||||
|
1.000 | 0.160 | 2 | 25240312 | missense variant | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.810 | 1.000 | 4 | 2014 | 2019 | |||||||
|
0.882 | 0.160 | 2 | 25231099 | 3 prime UTR variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
0.882 | 0.160 | 2 | 25231099 | 3 prime UTR variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||||||
|
1.000 | 0.160 | 2 | 25247079 | missense variant | T/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2018 | 2019 | |||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||||
|
0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2018 | 2019 | |||||||
|
1.000 | 0.160 | 2 | 25234307 | missense variant | G/A;C;T | snv | 3.6E-05; 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2014 | 2017 | |||||||
|
1.000 | 0.160 | 2 | 25241701 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
1.000 | 0.160 | 2 | 25247676 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
1.000 | 0.160 | 2 | 25244564 | missense variant | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 3 | 2014 | 2017 | ||||||||
|
1.000 | 0.160 | 2 | 25234313 | missense variant | A/G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 3 | 2014 | 2017 | |||||||
|
1.000 | 0.160 | 2 | 25240379 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.080 | 2 | 25234839 | intron variant | T/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 2 | 25234839 | intron variant | T/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 |