Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs864309661 | 1.000 | 0.080 | X | 49077715 | inframe deletion | CCA/- | delins | 4 | |||
| rs1057519622 | 1.000 | 0.080 | X | 49078038 | splice donor variant | AC/- | delins | 2 |