| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.160 | X | 100665627 | missense variant | G/A;C | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |