| 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 | 0.925 | 0.200 | 9 | 123371542 | missense variant | C/A;G;T | snv | 1.6E-05; 2.3E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 9 | 123371419 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |