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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 18 | 55350409 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
33 | 0.776 | 0.280 | 12 | 51765746 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
23 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
43 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
46 | 0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins | 0.700 | 0 | ||||||||
|
31 | 0.752 | 0.280 | 12 | 2653847 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
7 | X | 77633315 | missense variant | C/A | snv | 0.700 | 0 | ||||||||||
|
14 | 0.827 | 0.200 | 3 | 113795101 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | 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 | ||||||
|
15 | 0.790 | 0.120 | 15 | 79845388 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
15 | 0.790 | 0.120 | 15 | 79845338 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
44 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 0.700 | 0 |