| 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 | 0.040 | 9 | 22066213 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT | delins | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 |
|
0.900 | 1.000 | 11 | 2009 | 2020 | ||||||||
|
0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 |
|
0.720 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
0.925 | 0.120 | 8 | 41510767 | 3 prime UTR variant | T/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 55125270 | intron variant | T/G | snv | 0.51 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 16 | 24578078 | intergenic variant | T/G | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 7 | 116703812 | intron variant | T/G | snv | 7.3E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 16 | 24566199 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 10 | 49514779 | intron variant | T/G | snv | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 9 | 22032153 | intron variant | T/G | snv | 0.28 |
|
0.710 | 1.000 | 1 | 2017 | 2019 | ||||||||
|
0.807 | 0.160 | 12 | 912349 | 3 prime UTR variant | T/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.752 | 0.280 | 2 | 54283523 | intron variant | T/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.120 | 8 | 129479506 | intron variant | T/G | snv | 0.17 |
|
0.810 | 1.000 | 1 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 14 | 22788980 | intron variant | T/C;G | snv |
|
0.020 | 0.500 | 2 | 2013 | 2017 | |||||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.933 | 15 | 2010 | 2017 | |||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
0.820 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.827 | 0.120 | 4 | 55125564 | 5 prime UTR variant | T/C | snv | 0.48 |
|
0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 14 | 45073835 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |