| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 617300 | intron variant | TTTTTTTTTTTT/-;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 32537781 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTTTTT | delins | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 42719514 | intron variant | TTCT/-;TTCTTTCT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 69756466 | intron variant | TT/-;T;TTT;TTTTTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 40817975 | intron variant | TT/-;T;TTT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 182398 | downstream gene variant | TGAG/- | delins | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
4 | 147536174 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 110259643 | intergenic variant | T/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 135264840 | downstream gene variant | T/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 4 | 9925343 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 100147542 | intron variant | T/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 39206873 | 3 prime UTR variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 157014247 | intron variant | T/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
22 | 23767587 | synonymous variant | T/G | snv | 0.81 | 0.92 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
7 | 99968131 | missense variant | T/G | snv | 5.3E-03 | 4.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 7 | 151058086 | intron variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
12 | 56752285 | missense variant | T/G | snv | 0.12 | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
16 | 88792238 | intergenic variant | T/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 125154732 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 16620171 | intron variant | T/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 58402077 | intron variant | T/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 121811061 | intron variant | T/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 230877996 | intron variant | T/G | snv | 0.21 | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
17 | 63735635 | intron variant | T/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |