| 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 | 3 | 133951305 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2012 | 2012 | ||||||
|
1 | 1.000 | 3 | 133953723 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2012 | 2012 | ||||||
|
1 | 1.000 | 3 | 133947292 | missense variant | C/A | snv | 1.2E-05 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 3 | 133973807 | missense variant | T/A;C | snv | 4.0E-06 | 0.800 | 0 | ||||||||
|
1 | 1.000 | 3 | 133954980 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2012 | 2012 | ||||
|
1 | 1.000 | 3 | 133947261 | inframe deletion | GGTAGACTTCGG/- | delins | 1.4E-05 | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 3 | 133948892 | splice donor variant | C/T | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 133935781 | stop gained | G/A | snv | 3.6E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 3 | 133973770 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 133938485 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 3 | 133979619 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.040 | 3 | 133973750 | stop gained | C/A;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 3 | 133951239 | frameshift variant | A/-;AA | delins | 0.700 | 0 |