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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.827 | 0.200 | 10 | 49664880 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 0.700 | 0 | ||||||||
|
40 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.776 | 0.320 | X | 77688876 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
42 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
46 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.700 | 0 | ||||||
|
8 | 0.925 | 0.160 | 1 | 53211110 | missense variant | A/G;T | snv | 1.2E-05; 4.0E-05 | 0.700 | 0 | |||||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 0 | ||||||
|
11 | 0.827 | 0.200 | 10 | 49627735 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 1 | 21864095 | splice region variant | C/T | snv | 0.700 | 0 |