| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.080 | 3 | 133982275 | intron variant | G/A | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 15 | 67884824 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 4 | 117780291 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.790 | 0.080 | 4 | 181892145 | intron variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.730 | 1.000 | 1 | 2008 | 2015 | ||||||||
|
0.790 | 0.080 | 10 | 99585609 | intergenic variant | C/T | snv | 0.15 |
|
0.810 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 |
|
0.840 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 12351131 | missense variant | G/A | snv | 1.9E-03 | 7.8E-03 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 89637349 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.790 | 0.080 | 6 | 138801103 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 2005 | 2005 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.890 | 0.938 | 7 | 2007 | 2019 | ||||||||
|
0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 |
|
0.720 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 95150014 | frameshift variant | G/-;GG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 111405476 | missense variant | T/A | snv | 8.7E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 179199142 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 19 | 1220627 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 111318433 | upstream gene variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2008 | 2008 |