Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs797045342 | 1.000 | 0.160 | X | 78011452 | stop gained | G/A | snv | 1 | |||
| rs797045343 | 1.000 | 0.160 | X | 78011478 | frameshift variant | -/TTCTGTATTCCTGTAATGGGGCTGATGATAT | delins | 1 | |||
| rs797045344 | 1.000 | 0.160 | X | 78011498 | missense variant | G/A;C | snv | 1 | |||
| rs72554642 | 1.000 | 0.160 | X | 78011619 | missense variant | T/G | snv | 1 | |||
| rs797045346 | 1.000 | 0.160 | X | 78011662 | stop gained | T/A | snv | 1 | |||
| rs797045348 | 1.000 | 0.160 | X | 78011674 | missense variant | G/T | snv | 1 | |||
| rs797045347 | 1.000 | 0.160 | X | 78011679 | splice region variant | G/C | snv | 1 | |||
| rs797045349 | 1.000 | 0.160 | X | 78012877 | splice acceptor variant | A/G | snv | 1 | |||
| rs72554644 | 1.000 | 0.160 | X | 78012885 | stop gained | G/A;T | snv | 1 | |||
| rs797045350 | 1.000 | 0.160 | X | 78012889 | missense variant | G/A | snv | 1 | |||
| rs797045351 | 1.000 | 0.160 | X | 78012893 | stop gained | G/A | snv | 1 | |||
| rs797045352 | 1.000 | 0.160 | X | 78012951 | frameshift variant | -/ATTG | delins | 5.5E-06 | 1 | ||
| rs797045353 | 1.000 | 0.160 | X | 78013008 | frameshift variant | G/- | del | 1 | |||
| rs797045354 | 1.000 | 0.160 | X | 78013063 | missense variant | T/G | snv | 1 | |||
| rs72554645 | 1.000 | 0.160 | X | 78013089 | stop gained | C/T | snv | 1 | |||
| rs797045355 | 1.000 | 0.160 | X | 78013101 | frameshift variant | CATATAGCAAA/AGCATC | delins | 1 | |||
| rs797045356 | 1.000 | 0.160 | X | 78013111 | splice donor variant | AGG/T | delins | 1 | |||
| rs1569549974 | 0.882 | 0.240 | X | 78014722 | frameshift variant | G/- | del | 3 | |||
| rs797045357 | 1.000 | 0.160 | X | 78014755 | splice donor variant | T/A | snv | 1 | |||
| rs797045358 | 1.000 | 0.160 | X | 78015751 | coding sequence variant | -/GTGAAGA | delins | 1 | |||
| rs797045359 | 1.000 | 0.160 | X | 78015753 | splice acceptor variant | G/A | snv | 1 | |||
| rs367775730 | 1.000 | 0.160 | X | 78015786 | missense variant | G/A | snv | 2.1E-04 | 8.5E-05 | 1 | |
| rs797045360 | 1.000 | 0.160 | X | 78015810 | missense variant | C/T | snv | 1 | |||
| rs72554646 | 1.000 | 0.160 | X | 78015873 | missense variant | T/G | snv | 1 | |||
| rs797045361 | 1.000 | 0.160 | X | 78020261 | frameshift variant | -/C | delins | 1 |