| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 9 | 16915876 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 15 | 26986803 | intron variant | T/G | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 14 | 68559662 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.708 | 0.280 | 20 | 34131991 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 17 | 37741642 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 4 | 166265894 | intergenic variant | T/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 8 | 128529685 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 11 | 103745837 | intron variant | A/G | snv | 5.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 10 | 21589903 | intron variant | CCCCTT/-;CCCCTTCCCCTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.280 | 6 | 32699696 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.708 | 0.280 | 11 | 103813371 | intron variant | A/G | snv | 7.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 8 | 76408119 | intron variant | C/T | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |