| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 1 | 7738307 | missense variant | C/T | snv | 2.1E-03 | 1.3E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.040 | 1 | 7737443 | missense variant | C/G | snv | 0.12 | 9.8E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 6 | 22125735 | intron variant | T/C;G | snv |
|
0.830 | 1.000 | 3 | 2008 | 2017 | |||||||||
|
0.882 | 0.080 | 6 | 22131700 | intron variant | C/A | snv | 0.58 |
|
0.830 | 1.000 | 3 | 2008 | 2017 | ||||||||
|
0.851 | 0.160 | 6 | 22139775 | intron variant | A/G | snv | 0.62 |
|
0.840 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2010 | 2014 | ||||||||
|
0.882 | 0.080 | 11 | 104949666 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 15495395 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.724 | 0.280 | 12 | 12717761 | 5 prime UTR variant | T/C | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 22 | 28689164 | missense variant | A/C;G;T | snv | 1.3E-05; 7.3E-05 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.827 | 0.160 | 3 | 87253472 | stop gained | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.080 | 4 | 8616210 | intron variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 4 | 8611299 | intron variant | G/A | snv | 0.26 | 0.32 |
|
0.710 | 1.000 | 1 | 2017 | 2018 | |||||||
|
0.827 | 0.120 | 6 | 24357658 | missense variant | C/T | snv | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.080 | 5 | 55801706 | intron variant | G/A | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 9 | 32500886 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.080 | 17 | 49973938 | missense variant | A/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.851 | 0.080 | 12 | 32731118 | missense variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 7 | 55205510 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |