| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.280 | 17 | 31232832 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 0 | 2015 | 2015 | |||||||||
|
0.827 | 0.280 | 17 | 31340553 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.827 | 0.280 | 17 | 31235773 | splice donor variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 |
|
0.810 | 1.000 | 0 | 2007 | 2014 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.810 | 1.000 | 0 | 2007 | 2014 | ||||||||
|
0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 5 | 2000 | 2012 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.820 | 1.000 | 8 | 2005 | 2019 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 0 | 2007 | 2012 | |||||||||
|
0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv |
|
0.800 | 1.000 | 5 | 2003 | 2016 | |||||||||
|
0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 0 | 2003 | 2016 | |||||||||
|
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 | ||||||||||||
|
0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 12 | 2002 | 2013 | |||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 8 | 2002 | 2012 | ||||||||
|
0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 22 | 2001 | 2016 | |||||||||
|
0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv |
|
0.730 | 1.000 | 0 | 2004 | 2014 | |||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.870 | 1.000 | 0 | 2003 | 2019 | |||||||||
|
0.827 | 0.200 | 12 | 112450407 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 11 | 2003 | 2016 | |||||||||
|
0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 143041855 | missense variant | A/C;G | snv | 4.3E-06; 4.3E-06 |
|
0.800 | 1.000 | 0 | 2014 | 2014 | ||||||||
|
0.790 | 0.360 | 17 | 31258500 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 17 | 31334927 | stop gained | C/T | snv |
|
0.700 | 0 |