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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.160 | 8 | 143817591 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 12 | 48968320 | splice acceptor variant | C/G;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
14 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
12 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
17 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.160 | 16 | 56501014 | stop gained | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.360 | 17 | 58208003 | splice acceptor variant | T/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.851 | 0.200 | 11 | 103135949 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.120 | 19 | 38407003 | stop gained | C/G;T | snv | 4.0E-06; 1.4E-04; 4.0E-06 | 4.9E-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 | ||||||
|
5 | 0.851 | 0.240 | 7 | 33152851 | stop gained | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
12 | 0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.360 | 17 | 58208153 | inframe deletion | GAG/- | delins | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.851 | 0.240 | 12 | 76347023 | frameshift variant | CTAA/- | delins | 4.0E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.120 | 2 | 43794508 | stop gained | G/A | snv | 6.0E-05 | 7.0E-06 | 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 | ||||||||
|
22 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 2 | 43809711 | stop gained | G/T | snv | 0.700 | 0 |