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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.240 | 17 | 61683653 | frameshift variant | AGAT/- | delins | 3.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.240 | 17 | 61683805 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||
|
4 | 0.882 | 0.280 | 17 | 61683850 | frameshift variant | A/- | del | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 4 | 2010 | 2015 | |||
|
3 | 0.925 | 0.240 | 17 | 61684051 | frameshift variant | CTTT/- | delins | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 2008 | 2018 | |||
|
4 | 0.882 | 0.280 | 17 | 61684053 | frameshift variant | TGTT/-;TGTTTGTT | delins | 2.1E-05 | 0.700 | 1.000 | 3 | 2008 | 2016 | ||||
|
4 | 0.882 | 0.280 | 17 | 61685835 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 17 | 61685874 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 17 | 61685911 | stop gained | G/A;C | snv | 4.0E-06; 2.8E-04 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.280 | 17 | 61685976 | stop gained | A/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2015 | 2016 | |||
|
13 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 0.700 | 1.000 | 12 | 2005 | 2016 | |||
|
1 | 1.000 | 0.120 | 17 | 61743013 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61743015 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.240 | 17 | 61743050 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.240 | 17 | 61743135 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61744433 | frameshift variant | TT/- | delins | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 5 | 2005 | 2016 | |||
|
3 | 0.925 | 0.240 | 17 | 61744571 | frameshift variant | CTTTT/- | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 17 | 61758503 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.240 | 17 | 61776445 | stop gained | G/A | snv | 2.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins | 0.700 | 1.000 | 4 | 2015 | 2016 | |||||
|
4 | 0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 | 0.700 | 1.000 | 5 | 2014 | 2016 | ||||
|
4 | 0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.240 | 17 | 61780893 | stop gained | G/A | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 2 | 2011 | 2016 |