| 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 | 78550731 | intron variant | C/G;T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 26310241 | intron variant | G/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 15 | 74770056 | regulatory region variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 53815978 | 3 prime UTR variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 11 | 58641214 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
11 | 64161743 | intron variant | G/A | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 41275595 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 18350146 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 60252477 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 20567381 | intron variant | C/G | snv | 4.1E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 56163763 | intron variant | A/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 42969554 | regulatory region variant | A/T | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 136206349 | upstream gene variant | T/A | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 83778372 | intron variant | A/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.760 | 0.857 | 1 | 2008 | 2019 | ||||||||
|
11 | 47593023 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
11 | 13248667 | intergenic variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 4087261 | intron variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 120590036 | intergenic variant | G/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 128075405 | intron variant | G/A | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 155725188 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
15 | 69390577 | intron variant | A/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 27532326 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |