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 | 17 | 40062520 | 5 prime UTR variant | G/A | snv | 0.37 |
|
Respiratory Tract Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
17 | 40062551 | splice region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 40062551 | splice region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.851 | 0.240 | 17 | 40075600 | intron variant | T/C;G | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.240 | 17 | 40075600 | intron variant | T/C;G | snv |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 17 | 40075600 | intron variant | T/C;G | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 17 | 40075600 | intron variant | T/C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.240 | 17 | 40075600 | intron variant | T/C;G | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 17 | 40076870 | splice acceptor variant | G/A | snv | 8.8E-05 | 7.7E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 17 | 40077520 | missense variant | G/T | snv |
|
0.700 | 0 | |||||||||||||
|
17 | 40083963 | synonymous variant | C/T | snv | 3.6E-02 | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv |
|
0.700 | 1.000 | 9 | 2012 | 2016 | |||||||||
|
0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv |
|
0.700 | 1.000 | 4 | 2012 | 2015 | |||||||||
|
0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 17 | 40089333 | missense variant | G/C | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 40089359 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 9 | 2012 | 2016 | |||||||||
|
1.000 | 17 | 40089359 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 9 | 2012 | 2016 | |||||||||
|
1.000 | 17 | 40089359 | frameshift variant | C/- | delins |
|
0.700 | 1.000 | 9 | 2012 | 2016 | ||||||||||
|
1.000 | 17 | 40089399 | stop gained | C/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 40089416 | missense variant | C/G | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 40089430 | missense variant | G/A | snv |
|
0.700 | 0 |