| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 |
|
0.700 | 1.000 | 6 | 2004 | 2012 | |||||||
|
0.925 | 0.080 | 17 | 65537563 | frameshift variant | -/CGCGGGAGGCAGC | delins |
|
0.700 | 0 | ||||||||||||
|
0.776 | 0.080 | 13 | 33518027 | intron variant | -/TAA | delins | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 110638153 | frameshift variant | A/- | del |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 12392683 | frameshift variant | A/- | delins |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 |
|
0.900 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 183112059 | intron variant | A/C | snv | 0.37 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.790 | 0.080 | 15 | 81937658 | intron variant | A/C | snv | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 1 | 239918447 | upstream gene variant | A/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.080 | 20 | 34625392 | intron variant | A/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 45181130 | intron variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 17 | 913501 | intron variant | A/C | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 16 | 68710036 | intron variant | A/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 3 | 12416825 | missense variant | A/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 89413239 | missense variant | A/C | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 |
|
0.730 | 0.667 | 0 | 2005 | 2019 | |||||||
|
1.000 | 0.080 | 2 | 47799840 | missense variant | A/C | snv | 1.6E-05 | 4.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.080 | 16 | 78042662 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.776 | 0.080 | 14 | 34894698 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.120 | 5 | 112819347 | splice region variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 3 | 37047640 | missense variant | A/C;G;T | snv | 3.5E-03; 8.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 10 | 2004 | 2020 |