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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 6 | 73636653 | frameshift variant | -/A | delins | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 73635482 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 9 | 111594264 | frameshift variant | A/- | del | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
1 | 1.000 | 0.120 | 6 | 73641793 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73641867 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 73621864 | stop gained | A/C | snv | 8.4E-05 | 1.3E-04 | 0.700 | 1.000 | 4 | 2000 | 2014 | |||
|
1 | 1.000 | 0.120 | 6 | 73636619 | splice donor variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 73641832 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73638410 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73610520 | frameshift variant | AC/- | del | 5.2E-05 | 7.0E-05 | 0.700 | 1.000 | 3 | 2000 | 2005 | |||
|
1 | 1.000 | 0.120 | 6 | 73610538 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73610451 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 9 | 36234114 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 6 | 73610399 | splice donor variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2005 | ||||
|
1 | 1.000 | 0.120 | 6 | 73641925 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73644604 | splice acceptor variant | C/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 6 | 73644407 | splice region variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.710 | 1.000 | 4 | 2004 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 73615410 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2005 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 73635482 | stop gained | C/T | snv | 5.0E-05 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
4 | 0.925 | 0.120 | 6 | 73644582 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 73621873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73600350 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73635381 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 73636708 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 6 | 73610433 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 |