Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 0 | |||||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 14 | 75048771 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 179234231 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 87961101 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 2 | 47801050 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.700 | 0 | ||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
11 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 0.700 | 0 | |||||||
|
14 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 80675096 | frameshift variant | A/-;AA | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
7 | 0.807 | 0.400 | 16 | 68813322 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 2 | 47803449 | stop gained | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 47800685 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.240 | 2 | 47801086 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 2 | 47429891 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 2 | 47800714 | stop gained | C/A;T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.240 | 2 | 47783243 | stop gained | C/G;T | snv | 2.5E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 10 | 87933126 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 17 | 43092663 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 0.700 | 0 |