Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs797045398 | 1.000 | 0.160 | X | 78045577 | splice region variant | G/A | snv | 1 | |||
| rs797045396 | 1.000 | 0.160 | X | 78045533 | missense variant | C/T | snv | 1 | |||
| rs797045395 | 1.000 | 0.160 | X | 78045477 | frameshift variant | -/A | delins | 1 | |||
| rs797045393 | 1.000 | 0.160 | X | 78043435 | splice donor variant | G/A | snv | 1 | |||
| rs797045394 | 1.000 | 0.160 | X | 78043434 | missense variant | G/A | snv | 1 | |||
| rs797045392 | 1.000 | 0.160 | X | 78043322 | inframe deletion | TCT/- | delins | 1 | |||
| rs1557238665 | 0.882 | 0.240 | X | 78043316 | splice acceptor variant | G/A | snv | 3 | |||
| rs797045391 | 1.000 | 0.160 | X | 78042789 | splice donor variant | G/T | snv | 1 | |||
| rs797045390 | 1.000 | 0.160 | X | 78042726 | missense variant | G/A | snv | 1 | |||
| rs797045388 | 1.000 | 0.160 | X | 78042703 | missense variant | C/G | snv | 1 | |||
| rs797045389 | 1.000 | 0.160 | X | 78042700 | frameshift variant | C/- | delins | 1 | |||
| rs151340632 | 0.925 | 0.240 | X | 78042694 | missense variant | A/G | snv | 2 | |||
| rs72554657 | 1.000 | 0.160 | X | 78042687 | missense variant | G/A | snv | 1 | |||
| rs797045387 | 1.000 | 0.160 | X | 78040737 | splice region variant | A/G;T | snv | 1 | |||
| rs797045386 | 1.000 | 0.160 | X | 78040734 | splice donor variant | G/T | snv | 1 | |||
| rs797045385 | 1.000 | 0.160 | X | 78040732 | missense variant | A/T | snv | 1 | |||
| rs797045384 | 1.000 | 0.160 | X | 78040707 | frameshift variant | AA/TTAC | delins | 1 | |||
| rs797045383 | 1.000 | 0.160 | X | 78040706 | stop gained | T/ATGACTGG | delins | 1 | |||
| rs797045382 | 1.000 | 0.160 | X | 78040696 | missense variant | G/A | snv | 1 | |||
| rs72554655 | 1.000 | 0.160 | X | 78040695 | missense variant | G/A | snv | 1 | |||
| rs797045380 | 1.000 | 0.160 | X | 78038859 | frameshift variant | A/- | delins | 1 | |||
| rs797045379 | 1.000 | 0.160 | X | 78033812 | stop gained | C/T | snv | 1 | |||
| rs1557237451 | 0.882 | 0.240 | X | 78033783 | stop gained | C/A | snv | 3 | |||
| rs797045378 | 1.000 | 0.160 | X | 78033776 | stop gained | C/T | snv | 1 | |||
| rs797045377 | 1.000 | 0.160 | X | 78033689 | stop gained | G/T | snv | 1 |