Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1430282035 | 20 | 34996388 | missense variant | G/A | snv | 8.3E-06 | 1 | ||||
| rs771172991 | 20 | 34987284 | splice donor variant | AG/- | delins | 5.6E-05 | 1 |
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1430282035 | 20 | 34996388 | missense variant | G/A | snv | 8.3E-06 | 1 | ||||
| rs771172991 | 20 | 34987284 | splice donor variant | AG/- | delins | 5.6E-05 | 1 |