| 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 | 14835521 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 7432729 | 3 prime UTR variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 87430452 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 95536653 | intron variant | T/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 76003780 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
5 | 148213668 | intron variant | A/G | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 148182067 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 43302407 | downstream gene variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 33502689 | intron variant | G/A | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 52472832 | intron variant | C/T | snv | 0.81 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
9 | 134918015 | upstream gene variant | G/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 29367773 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 56956811 | missense variant | C/T | snv | 0.98 | 0.98 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
14 | 105766248 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 106685899 | upstream gene variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 94569037 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100706960 | regulatory region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 94571441 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 94572031 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 66093 | intergenic variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 19971440 | intron variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 102305323 | regulatory region variant | T/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 80941246 | regulatory region variant | G/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 306838 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |