| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.560 | 12 | 25209904 | missense variant | T/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.790 | 0.440 | 10 | 49478437 | stop gained | G/A | snv | 7.2E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 9 | 85020233 | missense variant | C/T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 11 | 111764842 | missense variant | C/T | snv | 6.5E-03 | 7.0E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 11352722 | missense variant | A/G | snv | 0.48 | 0.41 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 3 | 89472571 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.440 | 10 | 49472472 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.280 | 7 | 140801550 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140801551 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 7 | 140801537 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.280 | 7 | 140753392 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.200 | 22 | 28694073 | missense variant | G/A;C;T | snv | 1.7E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 17 | 7675157 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 22 | 29941597 | intron variant | T/C | snv | 0.78 |
|
0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 243199378 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 18 | 20955181 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.080 | 7 | 55174782 | missense variant | G/C | snv |
|
0.700 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 12 | 955272 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |