Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554139723 | 1.000 | 5 | 88804642 | frameshift variant | A/- | del | 1 | ||||
| rs1554139870 | 1.000 | 5 | 88804798 | missense variant | T/A | snv | 1 |
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554139723 | 1.000 | 5 | 88804642 | frameshift variant | A/- | del | 1 | ||||
| rs1554139870 | 1.000 | 5 | 88804798 | missense variant | T/A | snv | 1 |