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 | 0.240 | 17 | 61683805 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 4 | 2010 | 2016 | ||||
|
3 | 0.925 | 0.240 | 17 | 61861461 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.280 | 17 | 61743118 | frameshift variant | -/A | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.280 | 17 | 61780342 | frameshift variant | -/C | ins | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.240 | 17 | 61743050 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61683850 | frameshift variant | A/- | del | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 4 | 2010 | 2015 | |||
|
4 | 0.882 | 0.280 | 17 | 61808545 | frameshift variant | A/- | del | 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 | |||
|
3 | 0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins | 0.700 | 1.000 | 4 | 2015 | 2016 | |||||
|
2 | 0.925 | 0.240 | 17 | 61801458 | frameshift variant | AATA/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 17 | 61683653 | frameshift variant | AGAT/- | delins | 3.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.280 | 17 | 61859795 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 17 | 61793710 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 61743013 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61793698 | stop gained | C/A;G | snv | 4.0E-06 | 2.8E-05 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||
|
4 | 0.882 | 0.280 | 17 | 61859868 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.925 | 0.240 | 17 | 61847221 | splice acceptor variant | C/G | snv | 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 | 61784425 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61685835 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 17 | 61784423 | splice acceptor variant | CTATAAGAAATTACC/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 17 | 61684051 | frameshift variant | CTTT/- | delins | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 2008 | 2018 | |||
|
3 | 0.925 | 0.240 | 17 | 61744571 | frameshift variant | CTTTT/- | delins | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 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 |