Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057518926 | 0.925 | 0.120 | 3 | 70977675 | missense variant | G/C | snv | 5 | |||
| rs1559602356 | 1.000 | 3 | 70972577 | stop gained | G/A | snv | 3 | ||||
| rs1559619762 | 1.000 | 0.040 | 3 | 70977827 | splice donor variant | C/G | snv | 2 |