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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 128597592 | intergenic variant | A/G | snv | 0.13 |
|
0.800 | 1.000 | 3 | 2011 | 2017 | ||||||||||
|
11 | 128315955 | regulatory region variant | G/C | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
12 | 4209557 | intergenic variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
3 | 128587914 | regulatory region variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
14 | 75509305 | intergenic variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
19 | 16316300 | intron variant | A/G | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 148820448 | upstream gene variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 107122949 | intergenic variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 87286317 | intergenic variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
9 | 90004338 | intron variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 116868761 | intergenic variant | G/A | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 157664393 | intergenic variant | C/T | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 61476184 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 124813204 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
7 | 20502242 | intergenic variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 39711776 | downstream gene variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 150052058 | intergenic variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 55180855 | intergenic variant | T/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 43866494 | intergenic variant | T/A | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 8735729 | intergenic variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 61541105 | upstream gene variant | ATATT/-;ATATTATATT | delins | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.925 | 0.080 | 17 | 49388381 | intron variant | -/TCT | delins | 0.47 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 10 | 8553876 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |