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 | 0.882 | 0.400 | 10 | 49461382 | frameshift variant | CT/- | del | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.400 | 10 | 49530824 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49532751 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.440 | 10 | 49524073 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2008 | 2011 | |||||
|
5 | 0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 | 0.700 | 1.000 | 2 | 2010 | 2016 | |||
|
3 | 0.882 | 0.400 | 10 | 49474065 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.400 | 10 | 49474056 | stop gained | G/A | snv | 2.4E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.400 | 10 | 49458898 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.400 | 10 | 49472461 | stop gained | G/A | snv | 4.0E-06 | 4.2E-05 | 0.700 | 1.000 | 1 | 1998 | 1998 | |||
|
7 | 0.790 | 0.440 | 10 | 49478437 | stop gained | G/A | snv | 7.2E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.400 | 10 | 49482809 | stop gained | G/A | snv | 2.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
8 | 0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.400 | 10 | 49532904 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49483384 | stop gained | G/A;T | snv | 1.6E-05; 1.6E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49530737 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.400 | 10 | 49532705 | frameshift variant | GC/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49470424 | frameshift variant | T/- | del | 1.4E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.400 | 10 | 49470346 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49524421 | stop gained | T/A | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2010 | ||||
|
3 | 0.882 | 0.240 | 10 | 49482818 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
3 | 0.882 | 0.400 | 10 | 49476312 | splice acceptor variant | T/C | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.400 | 10 | 49506014 | splice acceptor variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.400 | 10 | 49528527 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.400 | 10 | 49460453 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.440 | 10 | 49472472 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 |