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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.080 | 16 | 23618750 | intron variant | C/T | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 16 | 23618750 | intron variant | C/T | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 16 | 23638074 | missense variant | A/G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 16 | 23638074 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 23634870 | missense variant | T/A;C | snv | 0.10 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 16 | 23635519 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 16 | 23629831 | stop gained | G/A | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.925 | 0.080 | 16 | 23613903 | intron variant | T/C | snv | 0.13 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 16 | 23629146 | intron variant | G/A | snv | 0.31 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 16 | 23622705 | intron variant | A/C;G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
16 | 23630140 | missense variant | C/G;T | snv | 2.3E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
16 | 23630140 | missense variant | C/G;T | snv | 2.3E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 16 | 23622972 | missense variant | C/G;T | snv | 1.6E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |