Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057521223 | 1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv | 5 | |||
| rs1553583712 | 1.000 | 2 | 165354339 | frameshift variant | GA/- | del | 2 |
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057521223 | 1.000 | 0.040 | 2 | 165373339 | stop gained | G/A;T | snv | 5 | |||
| rs1553583712 | 1.000 | 2 | 165354339 | frameshift variant | GA/- | del | 2 |