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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | 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 | ||||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
48 | 0.701 | 0.480 | 22 | 20061538 | missense variant | G/A | snv | 1.4E-04 | 7.0E-06 | 0.700 | 0 | ||||||
|
32 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
24 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
42 | 0.708 | 0.360 | 5 | 140114480 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
18 | 0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
40 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
25 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 0.700 | 0 | ||||||||
|
19 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
13 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.320 | X | 77688876 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.807 | 0.160 | 17 | 67912720 | frameshift variant | TG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
18 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 0.700 | 0 |