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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
12 | 0.776 | 0.280 | 11 | 6616858 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.200 | 11 | 6615220 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.240 | 11 | 6617154 | splice acceptor variant | C/A;G;T | snv | 4.0E-04; 1.2E-05 | 0.700 | 1.000 | 8 | 1997 | 2013 | ||||
|
4 | 0.851 | 0.120 | 11 | 6617040 | stop gained | G/A | snv | 2.2E-04 | 2.4E-04 | 0.710 | 1.000 | 9 | 1997 | 2017 | |||
|
7 | 0.851 | 0.160 | 11 | 6618821 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 11 | 6616696 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2001 | 2012 | |||
|
3 | 0.882 | 0.120 | 11 | 6617627 | stop gained | G/A | snv | 6.4E-05 | 4.2E-05 | 0.700 | 1.000 | 2 | 1999 | 2012 | |||
|
5 | 0.882 | 0.160 | 11 | 6617621 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 11 | 6617338 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6615172 | missense variant | G/A | snv | 2.4E-05 | 0.800 | 1.000 | 17 | 1997 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 6615542 | missense variant | C/T | snv | 0.700 | 1.000 | 14 | 1997 | 2012 | |||||
|
2 | 0.925 | 0.120 | 11 | 6615442 | missense variant | C/G | snv | 2.0E-05 | 2.1E-05 | 0.800 | 1.000 | 14 | 1997 | 2012 | |||
|
2 | 0.925 | 0.120 | 11 | 6617045 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 14 | 1997 | 2012 | ||||
|
2 | 0.925 | 0.120 | 11 | 6616056 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 0.800 | 1.000 | 6 | 1997 | 2012 | |||
|
2 | 0.925 | 0.120 | 11 | 6617695 | stop gained | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2008 | 2013 | ||||
|
2 | 0.925 | 0.120 | 11 | 6615217 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2001 | 2012 | |||||
|
2 | 0.925 | 0.120 | 11 | 6617430 | splice acceptor variant | T/C | snv | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||
|
4 | 0.925 | 0.240 | 11 | 6616714 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 0.925 | 0.120 | 11 | 6614892 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.120 | 11 | 6618820 | frameshift variant | AG/- | delins | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 11 | 6616720 | missense variant | T/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.160 | 11 | 6616973 | splice donor variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6616004 | splice donor variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 6615256 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 |