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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 106464462 | upstream gene variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 11 | 108474788 | 3 prime UTR variant | -/A | ins | 2.4E-05; 0.47 | 0.43 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
15 | 66651883 | intron variant | -/A | ins | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 45461799 | non coding transcript exon variant | -/A | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 18045473 | upstream gene variant | -/A | delins | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 54322000 | intron variant | -/A | ins | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 56740187 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 40614389 | intergenic variant | -/A | delins | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 25442718 | intron variant | -/A | delins | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 5877295 | downstream gene variant | -/A | delins | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 5877295 | downstream gene variant | -/A | delins | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 7 | 157000756 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
20 | 58831332 | intron variant | -/A | delins | 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
19 | 16102887 | 3 prime UTR variant | -/A | delins | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 16102887 | 3 prime UTR variant | -/A | delins | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 35763280 | intron variant | -/A | delins | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |