| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 15 | 53590245 | intron variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 13 | 27920235 | missense variant | C/A;G;T | snv | 2.6E-03; 3.4E-04; 5.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.240 | 1 | 169468804 | missense variant | T/G | snv | 5.2E-05 | 6.3E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 12 | 17004185 | intergenic variant | C/T | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 29445226 | intron variant | C/T | snv | 7.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 15 | 75843853 | splice region variant | C/T | snv | 0.54 | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.240 | 17 | 61388336 | non coding transcript exon variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 32427879 | intergenic variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 13 | 109770184 | intron variant | C/T | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 11239812 | missense variant | C/T | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 73733254 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 6 | 30106295 | intron variant | G/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 5 | 39385539 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 31349134 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 28900717 | downstream gene variant | C/G | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 6 | 25513951 | intron variant | G/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 239134419 | missense variant | C/T | snv | 6.0E-04 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 21 | 43753698 | missense variant | C/A;G | snv | 4.0E-06; 2.8E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.160 | 5 | 173108771 | missense variant | G/A | snv | 4.0E-05 | 8.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.040 | 21 | 15417030 | intron variant | C/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 21 | 43748998 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |