| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 5 | 112839942 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 12 | 1992 | 2015 | ||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 10 | 2004 | 2012 | |||||||||
|
0.925 | 0.120 | 5 | 112839606 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 8 | 1992 | 2015 | |||||||||
|
5 | 112839693 | stop gained | C/T | snv |
|
0.700 | 1.000 | 7 | 1992 | 2015 | |||||||||||
|
5 | 112839879 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 7 | 1992 | 2014 | |||||||||||
|
5 | 112839729 | stop gained | G/T | snv |
|
0.700 | 1.000 | 5 | 1992 | 2015 | |||||||||||
|
5 | 112839726 | stop gained | C/T | snv |
|
0.700 | 1.000 | 5 | 1994 | 2014 | |||||||||||
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 5 | 1990 | 2014 | ||||||||
|
0.882 | 0.120 | 5 | 112838220 | stop gained | C/A;T | snv |
|
0.700 | 1.000 | 4 | 1992 | 2014 | |||||||||
|
5 | 112839510 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 4 | 1992 | 2015 | |||||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.790 | 0.970 | 24 | 2002 | 2019 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 16 | 2005 | 2015 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 14 | 2004 | 2016 | |||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 13 | 2004 | 2016 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 12 | 2004 | 2016 | ||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
0.700 | 1.000 | 12 | 2004 | 2016 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 12 | 2005 | 2014 | ||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 1.000 | 12 | 2005 | 2016 | ||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
0.700 | 1.000 | 11 | 2004 | 2016 | |||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 11 | 2005 | 2014 |