| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 75292035 | downstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 4406208 | downstream gene variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.882 | 0.080 | 12 | 57133500 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 150289855 | upstream gene variant | C/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 32458764 | intron variant | C/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.790 | 0.400 | 17 | 67893677 | splice donor variant | A/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
9 | 116485780 | intron variant | A/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 39110310 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 6 | 26384865 | intron variant | C/G | snv | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
2 | 233916724 | upstream gene variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 12684062 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
3 | 154545386 | intergenic variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 96721618 | upstream gene variant | A/C;G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 69084300 | intron variant | C/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 10652192 | missense variant | T/A;C | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
18 | 62495558 | intergenic variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 3168622 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 46673933 | 3 prime UTR variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 109411098 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 110143926 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 51014586 | intergenic variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45733530 | splice region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 122441555 | 3 prime UTR variant | A/G | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |