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 | 0.120 | 6 | 73644583 | missense variant | G/A | snv | 8.3E-04 | 4.8E-04 | 0.870 | 1.000 | 14 | 1999 | 2011 | |||
|
3 | 0.882 | 0.120 | 6 | 73641810 | stop gained | T/A;C | snv | 3.2E-05 | 0.820 | 1.000 | 8 | 1999 | 2011 | ||||
|
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 | 73610399 | splice donor variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2005 | ||||
|
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 | 73635385 | inframe deletion | TTTCTTAATGATGAA/- | delins | 4.0E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2000 | 2005 | |||
|
1 | 1.000 | 0.120 | 6 | 73638492 | frameshift variant | G/- | del | 4.8E-05 | 6.3E-05 | 0.700 | 1.000 | 4 | 1999 | 2005 | |||
|
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 | 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 | 73641709 | frameshift variant | T/- | del | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2003 | 2006 | |||
|
2 | 0.925 | 0.120 | 6 | 73641807 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 1999 | 2005 | |||||
|
1 | 1.000 | 0.120 | 6 | 73638501 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 6 | 73615418 | frameshift variant | TA/- | del | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
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 | 73641832 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73641793 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73644482 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73641926 | splice acceptor variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73644494 | frameshift variant | T/- | del | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 6 | 73621873 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 6 | 73636628 | frameshift variant | G/- | del | 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 | 73610532 | frameshift variant | G/- | del | 0.700 | 0 |