| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057517694 | 0.882 | 0.200 | 9 | 78248290 | splice acceptor variant | G/A | snv | 3 | |||
| rs1057517695 | 0.882 | 0.200 | 9 | 78241729 | frameshift variant | T/- | delins | 3 | |||
| rs1057517691 | 1.000 | 9 | 78240365 | splice donor variant | G/T | snv | 1 | ||||
| rs1057517692 | 1.000 | 9 | 78243490 | frameshift variant | C/- | delins | 1 | ||||
| rs1057517693 | 1.000 | 9 | 78240369 | splice region variant | G/A | snv | 1 | ||||
| rs1057518753 | 1.000 | 9 | 78265370 | splice acceptor variant | A/G | snv | 1 | ||||
| rs745750156 | 1.000 | 9 | 78253282 | splice region variant | G/A | snv | 2.8E-05 | 1 |