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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2006 | 2006 | |||||||||
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2001 | 2006 | |||||||
|
0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2005 | 2006 | |||||||||
|
0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.724 | 0.320 | 3 | 179203760 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 15 | 63696341 | splice acceptor variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.280 | 16 | 89281225 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 11 | 31789935 | stop gained | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
0.700 | 0 |