| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1563686762 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 16 | |||
| rs1554612093 | 1.000 | 8 | 116863196 | stop gained | T/A | snv | 1 | ||||
| rs1554612096 | 1.000 | 8 | 116863221 | frameshift variant | -/AG | delins | 1 | ||||
| rs1563687901 | 1.000 | 8 | 116850687 | frameshift variant | -/G | delins | 1 | ||||
| rs1563689416 | 1.000 | 8 | 116854244 | splice donor variant | C/T | snv | 1 | ||||
| rs387907212 | 1.000 | 8 | 116854279 | missense variant | G/C | snv | 1 | ||||
| rs797045907 | 1.000 | 8 | 116866668 | frameshift variant | GCTAGCC/- | delins | 1 | ||||
| rs797045908 | 1.000 | 8 | 116857375 | frameshift variant | -/T | delins | 1 | ||||
| rs797045909 | 1.000 | 8 | 116857361 | frameshift variant | -/CT | delins | 1 | ||||
| rs387907213 | 1.000 | 8 | 116847643 | missense variant | A/G | snv | 1 | ||||
| rs863224910 | 1.000 | 8 | 116847588 | missense variant | A/G | snv | 1 |