| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 156249119 | upstream gene variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 196198232 | intron variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 158626648 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
16 | 155036 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 198614892 | intergenic variant | A/G | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 28861278 | non coding transcript exon variant | A/C | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 23576822 | downstream gene variant | T/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 72858742 | intron variant | C/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 48463457 | intron variant | T/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 100629042 | intron variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 62296430 | TF binding site variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 1080019 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
14 | 65053898 | intron variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 616517 | intron variant | T/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 16251828 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 123068632 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 57254284 | 3 prime UTR variant | A/T | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 8341827 | intron variant | C/T | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 133772601 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 42598868 | intergenic variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.120 | 11 | 5227003 | missense variant | C/G;T | snv | 9.2E-04; 4.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
5 | 1107313 | intron variant | C/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
22 | 37049628 | upstream gene variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |