| 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 |
|
0.700 | 1.000 | 4 | 2011 | 2017 | ||||||||||
|
3 | 128599154 | intergenic variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 3 | 2016 | 2018 | ||||||||||
|
19 | 33263642 | intergenic variant | C/T | snv | 6.8E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
1.000 | 0.120 | 8 | 7042814 | upstream gene variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
7 | 20502242 | intergenic variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 33269055 | regulatory region variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 39711776 | downstream gene variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
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 | |||||||||
|
12 | 88451258 | intergenic variant | A/G;T | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 128315955 | regulatory region variant | G/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 7048518 | intergenic variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101186966 | upstream gene variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 128603031 | intergenic variant | G/- | delins | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31261530 | intergenic variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 74094279 | downstream gene variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 50218107 | intron variant | T/A | snv | 5.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 33260946 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.925 | 0.080 | 15 | 41490486 | upstream gene variant | A/C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 67900953 | intergenic variant | C/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 40007042 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |