| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs587779579 | 1.000 | 0.160 | 2 | 188993372 | inframe insertion | -/ACCCTGCAG | delins | 1 | |||
| rs587779628 | 1.000 | 0.160 | 2 | 188988621 | inframe insertion | -/ACCTGGGCAAGCTGG | delins | 1 | |||
| rs587779712 | 1.000 | 0.160 | 2 | 189008973 | frameshift variant | -/AGGG | ins | 1 | |||
| rs587779653 | 1.000 | 0.160 | 2 | 189003038 | frameshift variant | -/C | delins | 1 | |||
| rs587779524 | 1.000 | 0.160 | 2 | 188988135 | splice donor variant | -/T | delins | 1 | |||
| rs587779537 | 1.000 | 0.160 | 2 | 188996179 | splice donor variant | -/T | delins | 1 | |||
| rs587779572 | 1.000 | 0.160 | 2 | 189002352 | splice donor variant | -/T | delins | 1 | |||
| rs587779608 | 1.000 | 0.160 | 2 | 188997175 | frameshift variant | -/T | delins | 1 | |||
| rs587779455 | 1.000 | 0.160 | 2 | 188990328 | frameshift variant | A/- | del | 1 | |||
| rs587779647 | 1.000 | 0.160 | 2 | 189010343 | frameshift variant | A/- | del | 1 | |||
| rs587779453 | 1.000 | 0.160 | 2 | 188994597 | splice region variant | A/C | snv | 1 | |||
| rs587779546 | 1.000 | 0.160 | 2 | 189007883 | splice acceptor variant | A/C | snv | 1 | |||
| rs587779670 | 1.000 | 0.160 | 2 | 188992877 | intron variant | A/C;G | snv | 4.0E-06 | 1 | ||
| rs1559063681 | 1.000 | 0.160 | 2 | 189010646 | splice acceptor variant | A/G | snv | 1 | |||
| rs587779558 | 1.000 | 0.160 | 2 | 189001395 | splice acceptor variant | A/G | snv | 1 | |||
| rs587779602 | 1.000 | 0.160 | 2 | 188992885 | splice acceptor variant | A/G | snv | 1 | |||
| rs587779682 | 1.000 | 0.160 | 2 | 189006935 | splice acceptor variant | A/G | snv | 1 | |||
| rs587779722 | 1.000 | 0.160 | 2 | 188997163 | splice acceptor variant | A/G | snv | 1 | |||
| rs587779502 | 1.000 | 0.160 | 2 | 189008033 | splice acceptor variant | A/G;T | snv | 1 | |||
| rs587779575 | 1.000 | 0.160 | 2 | 188997698 | splice acceptor variant | A/G;T | snv | 1 | |||
| rs587779713 | 1.000 | 0.160 | 2 | 189003065 | splice region variant | A/G;T | snv | 1 | |||
| rs587779598 | 1.000 | 0.160 | 2 | 188991726 | splice region variant | A/T | snv | 1 | |||
| rs587779658 | 1.000 | 0.160 | 2 | 189010217 | missense variant | A/T | snv | 1 | |||
| rs587779462 | 1.000 | 0.160 | 2 | 188997351 | frameshift variant | AA/- | del | 1 | |||
| rs587779525 | 1.000 | 0.160 | 2 | 188993403 | inframe deletion | AAAGAGGAGAACCTGGAC/- | delins | 1 |