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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.080 | 1 | 15445717 | missense variant | C/T | snv | 4.4E-03 | 3.8E-03 | 0.800 | 1.000 | 7 | 2008 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 15445688 | inframe deletion | CAAGAAGCCGGTAGTCTACACCCG/- | delins | 0.700 | 1.000 | 5 | 2008 | 2013 | |||||
|
2 | 0.925 | 0.040 | 1 | 15445703 | missense variant | C/T | snv | 9.9E-05 | 2.2E-04 | 0.700 | 1.000 | 4 | 2008 | 2013 | |||
|
1 | 1.000 | 0.040 | 1 | 15444645 | missense variant | A/G | snv | 7.8E-04 | 9.1E-05 | 0.700 | 1.000 | 4 | 2008 | 2013 | |||
|
1 | 1.000 | 0.040 | 1 | 15445606 | missense variant | G/A;C | snv | 6.0E-05 | 0.700 | 1.000 | 4 | 2008 | 2013 | ||||
|
3 | 0.925 | 0.040 | 1 | 15440524 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 15440492 | splice acceptor variant | G/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 15445660 | missense variant | G/A | snv | 1.1E-03 | 4.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 15445585 | intron variant | G/A;T | snv | 5.4E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 15440344 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 15442522 | frameshift variant | G/- | delins | 4.0E-06 | 7.0E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 15440494 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |