| 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 | 9151743 | mature miRNA variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 228347383 | intron variant | C/T | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.080 | 1 | 67729450 | intron variant | C/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.080 | 1 | 11804529 | 5 prime UTR variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.080 | 1 | 37990219 | upstream gene variant | G/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 183056420 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 1 | 206716793 | intron variant | A/G | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.080 | 1 | 186674636 | missense variant | A/C;G | snv | 4.0E-06; 7.6E-03 | 1.4E-02 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.776 | 0.120 | 1 | 37995647 | downstream gene variant | C/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 1 | 39458103 | non coding transcript exon variant | C/G | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.080 | 1 | 65469811 | intron variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 1 | 26419836 | intron variant | A/G | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.790 | 0.080 | 1 | 221876478 | downstream gene variant | G/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.080 | 1 | 183033504 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.776 | 0.080 | 1 | 221872104 | intergenic variant | G/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.080 | 1 | 221989031 | downstream gene variant | C/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.120 | 1 | 45332181 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.790 | 0.080 | 1 | 39344315 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.080 | 1 | 62207365 | missense variant | T/C | snv | 0.63 | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2009 | ||||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2019 |