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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 114763631 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||||||
|
10 | 76552244 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
14 | 74350715 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 7797607 | intron variant | C/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 68203197 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
12 | 66015587 | regulatory region variant | C/A | snv | 9.6E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
10 | 103879853 | 3 prime UTR variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
14 | 92631994 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
0.925 | 0.040 | 1 | 91611540 | TF binding site variant | G/A | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
3 | 99103206 | intergenic variant | G/T | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
3 | 158509097 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
7 | 156334552 | intergenic variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
7 | 28160478 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 221030957 | regulatory region variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 6 | 7562999 | intron variant | T/G | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
16 | 78191736 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
5 | 54148668 | intron variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
13 | 50132951 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 4 | 105897896 | splice region variant | G/A;T | snv | 0.17 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1 | 118368672 | intergenic variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
12 | 115062886 | intergenic variant | T/A | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
16 | 3533173 | 3 prime UTR variant | C/A;T | snv | 0.22 | 0.23 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 2 | 55869757 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |