| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 16 | 2089813 | missense variant | G/A | snv | 3.7E-03 | 3.3E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 16 | 2089957 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 0 |