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 | 14 | 53951945 | missense variant | T/C | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 12 | 48968320 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 10 | 87933216 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.120 | 17 | 58216664 | splice donor variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 20 | 10407704 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.120 | 2 | 43794485 | missense variant | C/G | snv | 2.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.120 | 2 | 43805247 | splice donor variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.120 | 2 | 43794508 | stop gained | G/A | snv | 6.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.120 | 2 | 43809711 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 2 | 43805249 | splice region variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.120 | 7 | 41966273 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 17 | 58208542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 6 | 53016099 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 3 | 196707860 | stop gained | -/T | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.360 | 17 | 58208003 | splice acceptor variant | T/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.240 | 15 | 72735944 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 7 | 33388145 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.200 | 15 | 72712259 | stop gained | C/T | snv | 0.700 | 0 |