| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 9 | 2005 | 2009 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 4 | 2001 | 2012 | |||||||
|
0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
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 | ||||||||
|
0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2006 | 2006 | |||||||||
|
0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.400 | 1 | 155904798 | missense variant | G/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.752 | 0.320 | 12 | 25245277 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.320 | 16 | 8811660 | missense variant | T/C | snv | 2.9E-04 | 4.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 15 | 66436837 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.320 | 11 | 71441307 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv |
|
0.700 | 0 |