| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918609 | 0.925 | 0.120 | 1 | 47251285 | stop gained | G/A;C | snv | 2 | |||
| rs199422206 | 0.925 | 0.120 | 1 | 47262902 | splice donor variant | C/T | snv | 2 | |||
| rs199422207 | 0.925 | 0.120 | 1 | 47251345 | frameshift variant | C/- | del | 2 | |||
| rs398122976 | 1.000 | 0.120 | 1 | 47269857 | missense variant | A/C | snv | 1 | |||
| rs587784452 | 1.000 | 0.120 | 1 | 47289563 | missense variant | A/T | snv | 1 | |||
| rs863225464 | 1.000 | 0.120 | 1 | 47301556 | splice region variant | C/A;T | snv | 7.0E-06 | 1 |