| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 1 | 155162859 | intergenic variant | T/C | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 8695601 | intergenic variant | G/C | snv | 0.42 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.080 | 20 | 6718948 | regulatory region variant | T/G | snv | 0.28 |
|
0.710 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.851 | 0.120 | 2 | 112840530 | non coding transcript exon variant | G/A | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 20 | 584433 | regulatory region variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.080 | 20 | 62381861 | downstream gene variant | C/A | snv | 0.28 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 8 | 116635549 | regulatory region variant | G/A;C | snv |
|
0.810 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
1.000 | 0.080 | 9 | 21242162 | upstream gene variant | C/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.120 | 3 | 195932298 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 11 | 63572600 | downstream gene variant | G/A | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 109822839 | regulatory region variant | TGTAGGGGCACAGAGAGA/-;TGTAGGGGCACAGAGAGATGTAGGGGCACAGAGAGA | delins |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 2 | 113083453 | upstream gene variant | A/G | snv | 0.39 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.200 | 3 | 30602723 | upstream gene variant | G/A | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.080 | 4 | 74821455 | intergenic variant | G/T | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 12 | 50486433 | intergenic variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 15 | 28460135 | upstream gene variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 5 | 8107899 | intergenic variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 22261235 | regulatory region variant | T/C | snv | 6.2E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 221892367 | intron variant | T/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 10 | 8696945 | intergenic variant | G/T | snv | 0.27 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 47347457 | non coding transcript exon variant | T/A | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 9 | 101900303 | intergenic variant | A/G | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |