| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 12 | 47976531 | missense variant | C/G | snv | 0.700 | 0 | ||||||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 4 | 15516757 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
6 | 1.000 | 0.120 | 12 | 109796650 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.120 | 17 | 50188131 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.160 | 4 | 169508827 | frameshift variant | TA/- | delins | 0.700 | 0 | ||||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.160 | 17 | 7403143 | frameshift variant | CACTCAGAGCCTGGTAGTAAAA/- | del | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.160 | 14 | 58467887 | missense variant | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.160 | 11 | 103155395 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.240 | 12 | 76347023 | frameshift variant | CTAA/- | delins | 4.0E-06 | 2.8E-05 | 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 | ||||||
|
23 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 11 | 103256241 | splice donor variant | G/A;C | snv | 4.4E-06 | 0.700 | 0 | |||||||||
|
15 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 0.700 | 0 |