| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.200 | 5 | 112815507 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 5 | 112815594 | splice donor variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 21 | 29773850 | intron variant | A/C;G | snv |
|
0.810 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 7 | 90689160 | intron variant | G/C | snv | 0.39 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.240 | 8 | 38414788 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 15 | 90088607 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.200 | 2 | 177234082 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |