| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 5 | 160470494 | intron variant | A/G | snv | 0.80 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.040 | 5 | 160475306 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 5 | 160484499 | intron variant | C/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.040 | 5 | 160484577 | intron variant | T/C | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.040 | 5 | 160474732 | intron variant | G/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 18 | 661647 | intron variant | G/A | snv | 0.22 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.790 | 0.200 | 15 | 33866065 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 14 | 45073835 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 12 | 27269953 | intron variant | C/T | snv | 7.1E-02 |
|
0.710 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 121696590 | 5 prime UTR variant | G/A;C;T | snv | 0.12 | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 8 | 41510767 | 3 prime UTR variant | T/G | snv | 0.93 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 4 | 121673909 | intron variant | T/C | snv | 8.3E-03 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 125644174 | intron variant | T/C | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 121674585 | intron variant | T/C | snv | 9.4E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 9 | 22066213 | intron variant | TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTTTTT | delins | 0.58 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.724 | 0.320 | 18 | 63319604 | 5 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 4 | 121696476 | intron variant | C/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 121670320 | intron variant | G/A | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 5 | 75581441 | synonymous variant | C/T | snv | 0.24 | 0.22 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 15 | 64943580 | missense variant | A/G | snv | 0.31 | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |