| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs397515335 | 0.925 | 0.120 | 1 | 243344277 | frameshift variant | G/- | delins | 2 | |||
| 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 | ||||
| rs1390963789 | 1.000 | 1 | 243378822 | frameshift variant | A/- | del | 1 | ||||
| rs387906218 | 1.000 | 1 | 243341153 | frameshift variant | -/G | delins | 1 | ||||
| rs397515336 | 1.000 | 1 | 243426517 | frameshift variant | GTGT/- | delins | 1 | ||||
| rs797045947 | 1.000 | 1 | 243286332 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | ||
| rs797045948 | 1.000 | 1 | 243293111 | stop gained | G/A | snv | 1 |