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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | X | 17375872 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17724370 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2003 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 17376034 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17731956 | missense variant | C/G;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 17725820 | missense variant | C/T | snv | 2.5E-02 | 6.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | X | 17687893 | splice donor variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17725566 | frameshift variant | GACA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17728262 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17692358 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17692430 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17726583 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17725866 | missense variant | T/C | snv | 6.5E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | X | 17728124 | missense variant | T/C | snv | 0.17 | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | X | 17635568 | start lost | T/A;C;G | snv | 9.0E-06; 1.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | X | 17726555 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17727627 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17721439 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 17692468 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | X | 17687870 | stop gained | C/T | snv | 0.700 | 0 |