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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 95826771 | upstream gene variant | G/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 56152275 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 56467292 | intron variant | AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA | delins | 0.87 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 65706327 | regulatory region variant | C/A | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 134700205 | intergenic variant | T/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 95575690 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 6679939 | downstream gene variant | -/TTAG | delins | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 32486159 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 125494452 | intron variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 120746070 | intron variant | -/C | ins | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 32338357 | intergenic variant | A/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 69944984 | downstream gene variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 190876471 | upstream gene variant | C/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 122464360 | TF binding site variant | T/C | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 144104973 | intron variant | C/T | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 30794357 | downstream gene variant | C/T | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 43792590 | intergenic variant | C/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31231989 | intergenic variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 168533 | upstream gene variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 205213737 | upstream gene variant | G/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 71601857 | intergenic variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
14 | 103551456 | upstream gene variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 143989463 | intron variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 16901230 | intergenic variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |