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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.280 | 17 | 61744578 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61859795 | splice donor variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 7674904 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.240 | 3 | 179203761 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
22 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
20 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 11 | 108272782 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.200 | 17 | 43093322 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 16 | 23626399 | splice acceptor variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.320 | 3 | 179204536 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 17 | 7673784 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.240 | 17 | 61743135 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.280 | 17 | 7675167 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676043 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 2 | 47791020 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 17 | 7673794 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 17 | 7673700 | splice donor variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.280 | 11 | 14294844 | missense variant | T/A;C | snv | 0.700 | 0 |