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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 2 | 47799789 | frameshift variant | AAAG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 47799491 | missense variant | C/G;T | snv | 6.2E-04 | 5.7E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 2 | 47798633 | frameshift variant | -/T | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 47803506 | missense variant | C/A;G;T | snv | 9.5E-05; 7.2E-05; 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 47799585 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47805638 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 47801034 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 2 | 47799853 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47806300 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 2 | 47799674 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.240 | 2 | 47806359 | splice donor variant | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 2 | 47806309 | stop gained | -/ATTA | delins | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 2 | 1999 | 2008 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806490 | frameshift variant | GGAGACT/- | del | 0.700 | 1.000 | 2 | 2006 | 2008 | |||||
|
4 | 0.925 | 0.160 | 2 | 47804984 | frameshift variant | -/A;AA | delins | 0.700 | 1.000 | 3 | 2007 | 2010 | |||||
|
4 | 0.925 | 0.160 | 2 | 47804908 | splice acceptor variant | A/G;T | snv | 0.700 | 1.000 | 2 | 1999 | 2010 | |||||
|
3 | 0.925 | 0.160 | 2 | 47800517 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.160 | 2 | 47806641 | stop gained | C/A;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||
|
4 | 0.925 | 0.160 | 2 | 47806606 | frameshift variant | CAAG/- | delins | 0.700 | 1.000 | 3 | 2003 | 2011 | |||||
|
4 | 0.925 | 0.160 | 2 | 47799427 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.160 | 2 | 47799813 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 9 | 1997 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47799169 | missense variant | C/G | snv | 5.4E-03 | 5.5E-03 | 0.700 | 1.000 | 9 | 1997 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47783306 | missense variant | G/T | snv | 1.4E-04 | 2.2E-04 | 0.700 | 1.000 | 9 | 1997 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47801059 | missense variant | G/C;T | snv | 0.700 | 1.000 | 9 | 1997 | 2012 |