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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.240 | 11 | 108247072 | missense variant | G/A | snv | 8.0E-05 | 6.3E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.200 | 11 | 108253839 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.200 | 11 | 108284226 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.200 | 11 | 108331957 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 108332789 | missense variant | A/G | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.360 | 11 | 108365208 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.200 | 2 | 214728813 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
5 | 0.882 | 0.200 | 2 | 214730491 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 4 | 2016 | 2017 | |||
|
6 | 0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2012 | 2016 | |||
|
3 | 0.925 | 0.200 | 2 | 214780669 | stop gained | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.200 | 2 | 214797118 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 1.000 | 3 | 2007 | 2017 | ||||
|
2 | 1.000 | 0.200 | 16 | 23607925 | frameshift variant | GGTT/NNNNNNNN;TCATTAAC | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 2010 | 2016 | |||
|
3 | 0.925 | 0.200 | 16 | 23623044 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 4 | 2011 | 2016 | |||||
|
3 | 0.925 | 0.200 | 16 | 23626377 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||
|
4 | 0.882 | 0.200 | 16 | 23629897 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 1.000 | 5 | 2007 | 2017 | ||||
|
3 | 0.925 | 0.200 | 16 | 23629936 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.240 | 16 | 23629986 | frameshift variant | AT/- | del | 6.4E-05 | 2.1E-05 | 0.700 | 1.000 | 5 | 2014 | 2016 | |||
|
4 | 0.925 | 0.200 | 16 | 23635095 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.400 | 16 | 23635306 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 3 | 2011 | 2016 | |||
|
3 | 0.925 | 0.200 | 16 | 23635504 | stop gained | G/A;T | snv | 4.0E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 |