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 | 11 | 68935404 | missense variant | G/A | snv | 4.4E-05 | 0.800 | 1.000 | 12 | 2001 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 68934466 | missense variant | G/A | snv | 2.5E-05 | 1.4E-05 | 0.800 | 1.000 | 10 | 2001 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 68929204 | missense variant | T/C | snv | 5.6E-05 | 7.7E-05 | 0.800 | 1.000 | 10 | 2001 | 2012 | |||
|
2 | 0.925 | 0.120 | 11 | 68929278 | missense variant | T/C | snv | 2.4E-05 | 2.8E-05 | 0.800 | 1.000 | 8 | 2001 | 2014 | |||
|
2 | 0.925 | 0.120 | 11 | 68911530 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 2001 | 2009 | |||||
|
1 | 1.000 | 0.120 | 11 | 68929229 | missense variant | C/G;T | snv | 8.0E-06 | 0.800 | 1.000 | 7 | 2001 | 2009 | ||||
|
4 | 0.882 | 0.120 | 11 | 68933854 | missense variant | C/T | snv | 6.3E-05 | 2.8E-05 | 0.800 | 1.000 | 7 | 2009 | 2016 | |||
|
1 | 1.000 | 0.120 | 11 | 68936288 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 8 | 2001 | 2009 | |||
|
1 | 1.000 | 0.120 | 11 | 68936287 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 7 | 2001 | 2009 | ||||
|
1 | 1.000 | 0.120 | 11 | 68936389 | missense variant | C/T | snv | 8.0E-06 | 4.2E-05 | 0.700 | 1.000 | 7 | 2001 | 2009 | |||
|
1 | 1.000 | 0.120 | 11 | 68933397 | missense variant | A/C;G | snv | 1.2E-05; 1.2E-05 | 0.700 | 1.000 | 7 | 2001 | 2009 | ||||
|
1 | 1.000 | 0.120 | 11 | 68929266 | stop gained | G/A;C;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 1.000 | 7 | 2001 | 2009 | ||||
|
2 | 0.925 | 0.120 | 11 | 68933864 | stop gained | C/A;T | snv | 1.6E-04; 3.0E-05 | 0.700 | 1.000 | 6 | 1975 | 2015 | ||||
|
3 | 0.882 | 0.120 | 11 | 68939658 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 4 | 2004 | 2015 | |||||
|
3 | 0.882 | 0.120 | 11 | 68908338 | splice donor variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2016 | ||||
|
6 | 0.851 | 0.160 | 11 | 68908632 | splice donor variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2003 | 2015 | |||
|
2 | 0.925 | 0.120 | 11 | 68908327 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2003 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 68908143 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 68935297 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 3 | 2003 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 68936293 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 1.000 | 2 | 2003 | 2014 | |||
|
1 | 1.000 | 0.120 | 11 | 68935374 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 11 | 68939671 | missense variant | T/A;G | snv | 4.0E-06; 1.0E-03 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 11 | 68914937 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 68929315 | missense variant | C/A;T | snv | 2.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 11 | 68917801 | frameshift variant | AAGAA/- | delins | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 |