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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.700 | 1.000 | 13 | 2011 | 2017 | |||
|
3 | 0.925 | 0.120 | 5 | 251100 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 1.000 | 10 | 1995 | 2017 | |||
|
3 | 1.000 | 5 | 251427 | missense variant | C/G;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 2011 | 2018 | |||||
|
4 | 0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 7 | 2009 | 2014 | |||
|
1 | 5 | 230923 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2013 | 2013 | |||||
|
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 | 2013 | |||
|
3 | 0.925 | 0.080 | 5 | 240396 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2014 | |||
|
2 | 5 | 236507 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2013 | 2017 | |||||
|
3 | 0.925 | 0.080 | 5 | 218356 | start lost | A/C;G;T | snv | 8.7E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | |||||
|
3 | 0.925 | 0.080 | 5 | 240459 | stop gained | C/T | snv | 3.2E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.080 | 5 | 225979 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 5 | 224432 | stop gained | C/T | snv | 9.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 5 | 236599 | splice donor variant | GG/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.080 | 5 | 223569 | splice donor variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 5 | 240451 | stop gained | CG/GA | mnv | 0.700 | 0 | ||||||||
|
1 | 5 | 256333 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 224359 | splice acceptor variant | G/C | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 5 | 225982 | frameshift variant | CCATCGGTGC/- | delins | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.080 | 5 | 230880 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 5 | 233647 | splice donor variant | T/A | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.080 | 5 | 228229 | frameshift variant | G/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 5 | 233635 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 5 | 256332 | splice acceptor variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |