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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 11 | 112088972 | missense variant | A/G;T | snv | 0.810 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 19 | 35995443 | missense variant | G/C | snv | 0.800 | 1.000 | 3 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.080 | 19 | 35995438 | missense variant | G/A;C | snv | 5.7E-06 | 0.800 | 1.000 | 3 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 251338 | missense variant | G/A | snv | 4.1E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 112088902 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 0 | |||||||
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.700 | 1.000 | 9 | 2011 | 2016 | |||
|
4 | 0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 2010 | 2017 | |||
|
3 | 0.925 | 0.080 | 5 | 218356 | start lost | A/C;G;T | snv | 8.7E-06 | 0.700 | 1.000 | 5 | 2000 | 2016 | ||||
|
6 | 0.851 | 0.200 | 5 | 218357 | start lost | T/A;C;G | snv | 8.7E-06; 8.7E-06 | 0.700 | 1.000 | 4 | 2000 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 225880 | splice acceptor variant | AGC/- | delins | 7.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.080 | 5 | 223569 | splice donor variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2015 | |||
|
2 | 0.925 | 0.080 | 5 | 228184 | splice acceptor variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
3 | 0.925 | 0.080 | 5 | 240459 | stop gained | C/T | snv | 3.2E-05 | 4.9E-05 | 0.700 | 1.000 | 2 | 2013 | 2015 | |||
|
3 | 0.925 | 0.080 | 5 | 251104 | splice donor variant | G/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2012 | 2015 | |||
|
3 | 0.925 | 0.080 | 5 | 224432 | stop gained | C/T | snv | 9.2E-05 | 2.8E-05 | 0.700 | 1.000 | 2 | 2013 | 2014 | |||
|
3 | 0.925 | 0.080 | 5 | 236599 | splice donor variant | GG/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2015 | |||
|
3 | 0.925 | 0.080 | 5 | 235230 | stop gained | C/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.925 | 0.080 | 5 | 228248 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.080 | 5 | 240393 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 5 | 240396 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 5 | 228324 | splice donor variant | TGCCACAGGGTAGGAATCTCATTTCT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 225906 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 5 | 240451 | stop gained | CG/GA | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 5 | 251011 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 225483 | frameshift variant | C/- | delins | 0.700 | 0 |