| 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 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.790 | 0.080 | 12 | 4259186 | intron variant | T/C | snv | 0.54 |
|
0.810 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
0.776 | 0.080 | 10 | 8697617 | intergenic variant | T/A | snv | 0.25 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.810 | 1.000 | 1 | 2014 | 2018 | ||||||||
|
0.790 | 0.080 | 11 | 74634505 | intron variant | T/G | snv | 0.40 |
|
0.810 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.776 | 0.160 | 12 | 114678547 | intron variant | T/A;G | snv | 0.49 |
|
0.810 | 0.500 | 1 | 2013 | 2014 | ||||||||
|
0.790 | 0.080 | X | 9783434 | intron variant | T/C | snv | 0.50 |
|
0.810 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.080 | 8 | 116635549 | regulatory region variant | G/A;C | snv |
|
0.810 | 1.000 | 1 | 2014 | 2019 | |||||||||
|
0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 |
|
0.810 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv |
|
0.810 | 0.500 | 1 | 2011 | 2013 | |||||||||
|
0.790 | 0.080 | 12 | 6872998 | splice acceptor variant | C/T | snv | 9.3E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.080 | 2 | 153074663 | intergenic variant | G/C | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 16 | 55504828 | intron variant | A/G | snv | 3.7E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 16 | 86662114 | intron variant | G/C | snv | 0.20 |
|
0.710 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.776 | 0.080 | 14 | 58722643 | intron variant | G/A | snv | 0.12 |
|
0.710 | 1.000 | 1 | 2015 | 2019 | ||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 1 | 1999 | 2012 | ||||||||
|
0.790 | 0.080 | 6 | 53312880 | intron variant | C/A | snv | 0.92 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.080 | 12 | 11856807 | intron variant | A/G | snv | 0.18 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 8 | 116611854 | intergenic variant | T/C | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2016 | 2019 | ||||||||
|
0.776 | 0.080 | 12 | 17291799 | intergenic variant | A/T | snv | 0.96 |
|
0.710 | 1.000 | 1 | 2015 | 2015 |