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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
12 | 0.807 | 0.280 | 16 | 8801859 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.160 | 3 | 12604194 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
26 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
6 | 0.882 | 19 | 41986177 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
|
31 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.240 | 1 | 23848684 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
54 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | ||||||||
|
14 | 0.776 | 0.360 | 16 | 8811088 | stop gained | C/A;T | snv | 4.4E-05; 5.4E-06 | 0.700 | 0 | |||||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
35 | 0.701 | 0.560 | 10 | 76891709 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
21 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 0.700 | 0 |