Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397515337 | 0.925 | 1 | 243305133 | missense variant | C/T | snv | 1.2E-04 | 6.3E-05 | 2 | ||
rs756907665 | 0.925 | 1 | 243286398 | splice donor variant | G/A | snv | 1.2E-05 | 1.4E-05 | 2 | ||
rs797045946 | 0.925 | 1 | 243270976 | splice acceptor variant | A/G | snv | 2 |