| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 0.964 | 5 | 2008 | 2019 | ||||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 41 | 2001 | 2018 | |||||||
|
0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 |
|
0.720 | 1.000 | 1 | 2012 | 2013 | |||||||
|
0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.360 | 6 | 32945469 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.160 | 1 | 98037378 | intron variant | G/T | snv | 0.78 |
|
0.720 | 1.000 | 1 | 2012 | 2013 | ||||||||
|
0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 |
|
0.900 | 0.933 | 2 | 2008 | 2018 | ||||||||
|
0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.320 | 6 | 30814225 | non coding transcript exon variant | C/T | snv | 7.1E-02 | 8.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.080 | 3 | 36814539 | downstream gene variant | T/C | snv | 0.45 |
|
0.810 | 1.000 | 9 | 2010 | 2019 | ||||||||
|
0.790 | 0.120 | 6 | 152469438 | intron variant | G/T | snv | 0.46 |
|
0.820 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.240 | 7 | 150339575 | intron variant | T/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.160 | 6 | 32707332 | upstream gene variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.080 | 11 | 79366149 | intron variant | A/G | snv | 0.15 |
|
0.820 | 1.000 | 5 | 2011 | 2018 | ||||||||
|
0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 |
|
0.810 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.040 | 18 | 55084786 | intergenic variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 12 | 71151778 | intron variant | T/A | snv | 7.6E-02 |
|
0.710 | 1.000 | 1 | 2008 | 2010 | ||||||||
|
0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.160 | 3 | 85555773 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 |
|
0.800 | 1.000 | 3 | 2011 | 2014 | ||||||||
|
0.851 | 0.040 | 1 | 78772330 | intergenic variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 3 | 2013 | 2014 |