| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554873950 | 0.882 | 0.400 | 10 | 49460371 | splice donor variant | A/T | snv | 3 | |||
| rs1554873973 | 0.882 | 0.400 | 10 | 49460453 | splice acceptor variant | T/C | snv | 3 | |||
| rs1554874073 | 0.882 | 0.400 | 10 | 49461378 | frameshift variant | C/- | delins | 3 | |||
| rs1554875114 | 0.882 | 0.400 | 10 | 49470181 | splice donor variant | C/G | snv | 3 | |||
| rs1554875154 | 0.882 | 0.400 | 10 | 49470332 | frameshift variant | -/A | delins | 3 | |||
| rs1554875155 | 0.882 | 0.400 | 10 | 49470346 | frameshift variant | T/- | delins | 3 | |||
| rs1554875287 | 0.882 | 0.400 | 10 | 49470890 | splice acceptor variant | C/T | snv | 3 | |||
| rs1554875522 | 0.882 | 0.400 | 10 | 49472908 | splice donor variant | C/T | snv | 3 | |||
| rs1564725764 | 1.000 | 0.160 | 10 | 49461393 | stop gained | C/T | snv | 1 | |||
| rs185142838 | 0.851 | 0.400 | 10 | 49461473 | stop gained | G/A | snv | 1.4E-04 | 9.1E-05 | 5 | |
| rs202080674 | 0.851 | 0.160 | 10 | 49482848 | missense variant | G/A | snv | 8.0E-06 | 4 | ||
| rs368728467 | 1.000 | 0.160 | 10 | 49474074 | missense variant | A/G;T | snv | 1 | |||
| rs371739894 | 0.925 | 0.400 | 10 | 49505883 | splice donor variant | C/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
| rs373227647 | 0.790 | 0.440 | 10 | 49472472 | splice acceptor variant | T/C | snv | 8.0E-06 | 7.0E-06 | 7 | |
| rs376526037 | 0.776 | 0.440 | 10 | 49483504 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 8 | |
| rs387906262 | 1.000 | 0.160 | 10 | 49524457 | frameshift variant | -/T | delins | 1 | |||
| rs4253196 | 1.000 | 0.160 | 10 | 49473613 | intron variant | T/C;G | snv | 5.2E-05 | 1 | ||
| rs527236039 | 1.000 | 0.160 | 10 | 49530716 | splice region variant | T/- | del | 7.0E-06 | 1 | ||
| rs577021605 | 0.882 | 0.400 | 10 | 49532904 | stop gained | G/A | snv | 3 | |||
| rs751292948 | 1.000 | 0.160 | 10 | 49482798 | stop gained | C/G;T | snv | 4.0E-06 | 1 | ||
| rs751448793 | 0.882 | 0.400 | 10 | 49474056 | stop gained | G/A | snv | 2.4E-05 | 1.4E-05 | 3 | |
| rs751838040 | 0.925 | 0.400 | 10 | 49530797 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 2 | |
| rs754978734 | 0.882 | 0.400 | 10 | 49476312 | splice acceptor variant | T/C | snv | 1.2E-05 | 2.1E-05 | 3 | |
| rs762976316 | 0.882 | 0.400 | 10 | 49458898 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 3 | |
| rs765825423 | 0.882 | 0.400 | 10 | 49461382 | frameshift variant | CT/- | del | 2.0E-05 | 1.4E-05 | 3 |