Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.240 | 9 | 4292083 | intron variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.200 | 9 | 4293150 | intron variant | A/C | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.320 | 12 | 56076841 | 5 prime UTR variant | C/T | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.120 | 2 | 197945251 | intron variant | G/A | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 19 | 10380572 | 5 prime UTR variant | T/C | snv | 5.0E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.662 | 0.640 | 10 | 52771475 | missense variant | C/T | snv | 0.14 | 0.11 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.240 | 10 | 52771466 | missense variant | C/T | snv | 3.2E-02 | 7.9E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.160 | 9 | 34737831 | intron variant | C/T | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 19 | 10380646 | upstream gene variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 10 | 100057106 | synonymous variant | C/G;T | snv | 6.6E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.360 | 10 | 52771482 | missense variant | G/A | snv | 5.6E-02 | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.200 | 2 | 198032171 | intron variant | A/G | snv | 0.49 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 2 | 198065082 | intron variant | C/T | snv | 0.43 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 6 | 33077921 | intron variant | G/A | snv | 9.5E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |