Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1569146993 | 0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins | 5 | |||
| rs869312678 | 0.925 | 0.160 | 22 | 42209920 | frameshift variant | CA/- | delins | 3 |