Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057517295 | 1.000 | 0.320 | 8 | 99096433 | splice donor variant | G/A;T | snv | 2 | |||
| rs1060499779 | 8 | 99013791 | start lost | G/A | snv | 1 |
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057517295 | 1.000 | 0.320 | 8 | 99096433 | splice donor variant | G/A;T | snv | 2 | |||
| rs1060499779 | 8 | 99013791 | start lost | G/A | snv | 1 |