| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.200 | 1 | 215891198 | intron variant | T/C | snv | 4.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 |
|
0.730 | 1.000 | 6 | 2004 | 2019 | ||||||||
|
0.851 | 0.080 | 2 | 61839695 | stop gained | T/A | snv | 2.8E-04 | 2.9E-04 |
|
0.700 | 1.000 | 6 | 2010 | 2019 | |||||||
|
0.925 | 0.080 | 1 | 215674335 | stop gained | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 |
|
0.700 | 1.000 | 2 | 2004 | 2019 | |||||||
|
0.882 | 0.080 | 14 | 67726086 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.200 | 3 | 150972520 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 |
|
0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 1 | 197421010 | stop gained | C/A;T | snv | 1.2E-05; 9.2E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 654119 | stop gained | C/T | snv | 4.4E-05 | 5.6E-05 |
|
0.700 | 1.000 | 1 | 1993 | 1993 | |||||||
|
0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 15994028 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.080 | 1 | 197427726 | stop gained | A/T | snv | 5.2E-05 | 1.3E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 5 | 149931117 | stop gained | G/A | snv | 3.6E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 1 | 94063315 | stop gained | G/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 8 | 54625938 | stop gained | C/T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.080 | 4 | 47936954 | stop gained | G/A | snv | 5.2E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.200 | 11 | 77142783 | stop gained | C/A;T | snv | 3.7E-05; 3.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 29071260 | stop gained | C/G;T | snv | 2.0E-05; 4.8E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 1 | 68446825 | stop gained | G/A;T | snv | 2.4E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.200 | 1 | 215845898 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |