| 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 | |||||||
|
11 | 0.776 | 0.320 | 2 | 42769785 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.160 | 12 | 80717084 | frameshift variant | AGTTCTCACC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 12 | 80717346 | missense variant | C/T | snv | 0.700 | 0 |