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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.240 | 6 | 129143976 | missense variant | C/T | snv | 6.0E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 6 | 129481381 | missense variant | T/C | snv | 1.4E-05 | 0.800 | 1.000 | 5 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 129401345 | splice region variant | G/C | snv | 2.0E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2000 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 129267127 | stop gained | C/A;T | snv | 0.700 | 1.000 | 5 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129287893 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2017 | ||||
|
2 | 0.925 | 0.120 | 6 | 129190317 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2017 | |||
|
1 | 1.000 | 0.120 | 6 | 129401254 | stop gained | C/T | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 3 | 2010 | 2015 | |||
|
2 | 0.925 | 0.120 | 6 | 129492484 | splice donor variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 129516273 | stop gained | A/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2000 | |||
|
1 | 1.000 | 0.120 | 6 | 129316161 | stop gained | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||
|
2 | 0.925 | 0.120 | 6 | 129391535 | stop gained | C/G;T | snv | 2.4E-05 | 0.700 | 1.000 | 3 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 129050088 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129315638 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1995 | 2015 | |||||
|
3 | 0.882 | 0.120 | 6 | 129481422 | stop gained | C/G;T | snv | 5.2E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2010 | 2015 | |||
|
2 | 0.925 | 0.120 | 6 | 129353285 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.120 | 6 | 129464444 | stop gained | C/A;T | snv | 8.0E-06; 2.4E-05 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 129478729 | frameshift variant | -/AAGA | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 129353162 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 2 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129280071 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129050089 | splice donor variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2010 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 129464288 | splice acceptor variant | A/C | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2008 | 2015 | |||
|
1 | 1.000 | 0.120 | 6 | 129252244 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 2 | 1998 | 2010 | |||||
|
1 | 1.000 | 0.120 | 6 | 129297790 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1998 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 129315549 | frameshift variant | T/- | delins | 4.2E-05 | 0.700 | 1.000 | 2 | 2005 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 129059863 | stop gained | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2008 | 2015 |