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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.240 | 2 | 47416430 | splice donor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 2 | 47470964 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47476362 | splice region variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 2 | 47414344 | stop gained | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 2 | 47429812 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 2 | 47475126 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 2 | 47476492 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 2 | 47410178 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 |