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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 2 | 19960553 | splice donor variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2011 | 2018 | |||||
|
4 | 0.851 | 0.160 | 2 | 19941796 | stop gained | A/C | snv | 1.6E-04 | 1.9E-04 | 0.700 | 1.000 | 3 | 2013 | 2017 | |||
|
5 | 0.827 | 0.120 | 2 | 19969556 | missense variant | C/A | snv | 2.4E-05 | 2.8E-05 | 0.800 | 1.000 | 3 | 2011 | 2017 | |||
|
2 | 0.925 | 0.080 | 2 | 19946549 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 19953834 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 2 | 19914054 | synonymous variant | C/T | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 2 | 19962311 | frameshift variant | -/C | delins | 4.0E-06 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 2 | 19941837 | splice acceptor variant | CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 19982552 | intron variant | A/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 2 | 19969494 | stop gained | G/A | snv | 1.6E-05 | 4.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 2 | 19946495 | stop gained | G/A;C | snv | 1.6E-05; 8.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 2 | 19973664 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 2 | 19953853 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 |