Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs764618040 | 1.000 | 0.040 | 1 | 119726868 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 2 | |
| rs886041874 | 1.000 | 0.040 | 1 | 119721323 | splice donor variant | T/C | snv | 4.0E-06 | 2 |