| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.742 | 0.320 | 12 | 57244322 | missense variant | C/G | snv | 9.1E-05 | 3.8E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 3 | 120416036 | intron variant | T/C | snv | 0.36 | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 |