| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 |
|
0.100 | 0.880 | 25 | 2007 | 2019 | ||||||||
|
0.882 | 0.160 | 21 | 26930036 | missense variant | A/G | snv | 0.83 | 0.89 |
|
0.030 | 0.667 | 3 | 2008 | 2019 | |||||||
|
0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 |
|
0.020 | 0.500 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 21 | 26932893 | missense variant | C/T | snv | 0.12 | 0.12 |
|
0.020 | 0.500 | 2 | 2016 | 2019 | |||||||
|
0.925 | 0.040 | 2 | 70490521 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 245587630 | intron variant | T/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 118939534 | intron variant | G/A | snv | 0.30 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 1 | 11189075 | intron variant | G/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 18 | 23390742 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 12 | 123218875 | intron variant | -/TGT;TGTTGT | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 10 | 7562392 | 3 prime UTR variant | T/C;G | snv | 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 9 | 4291928 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 30752733 | intergenic variant | G/C;T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 8 | 41263761 | 3 prime UTR variant | T/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 96090522 | intron variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 76795528 | intron variant | T/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 6 | 26123274 | intron variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 44481960 | intergenic variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 10 | 121515260 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 72119217 | intron variant | G/A | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |