| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs748597500 | 0.882 | 2 | 73950732 | splice region variant | G/A | snv | 4.0E-05 | 4.9E-05 | 3 | ||
| rs104893633 | 0.925 | 0.080 | 2 | 73958201 | missense variant | G/T | snv | 4.0E-06 | 3 | ||
| rs863223949 | 0.925 | 2 | 73957135 | frameshift variant | GA/- | delins | 8.0E-06 | 2 | |||
| rs104893630 | 1.000 | 2 | 73946776 | stop gained | C/T | snv | 4.0E-06 | 1 | |||
| rs104893631 | 1.000 | 2 | 73946888 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | ||
| rs104893632 | 1.000 | 2 | 73957212 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 | 1 | ||
| rs1204316787 | 1.000 | 2 | 73938922 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | ||
| rs587780587 | 1.000 | 2 | 73946750 | missense variant | T/C | snv | 4.0E-06 | 1 | |||
| rs886037613 | 1.000 | 2 | 73939018 | frameshift variant | A/- | delins | 1 | ||||
| rs886037615 | 1.000 | 2 | 73957141 | frameshift variant | GT/- | delins | 1 | ||||
| rs749464475 | 1.000 | 2 | 73958187 | missense variant | T/C | snv | 3.2E-05 | 2.1E-05 | 1 | ||
| rs763706988 | 1.000 | 2 | 73958199 | stop gained | -/GATT | delins | 1.4E-05 | 1 |