Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs72554654 | 1.000 | 0.160 | X | 78033663 | missense variant | G/A | snv | 1 | |||
| rs797045376 | 1.000 | 0.160 | X | 78033662 | missense variant | G/T | snv | 1 | |||
| rs797045375 | 1.000 | 0.160 | X | 78033650 | frameshift variant | G/- | del | 1 | |||
| rs797045374 | 1.000 | 0.160 | X | 78031583 | splice donor variant | G/T | snv | 1 | |||
| rs797045373 | 1.000 | 0.160 | X | 78031576 | stop gained | C/A | snv | 1 | |||
| rs797045372 | 1.000 | 0.160 | X | 78031573 | stop gained | T/G | snv | 1 | |||
| rs1557237050 | 1.000 | 0.160 | X | 78031428 | missense variant | G/A | snv | 1 | |||
| rs797045370 | 1.000 | 0.160 | X | 78031420 | missense variant | T/C;G | snv | 1 | |||
| rs797045369 | 1.000 | 0.160 | X | 78031415 | protein altering variant | TTTGA/AGTACAGG | delins | 1 | |||
| rs797045368 | 1.000 | 0.160 | X | 78031411 | frameshift variant | G/- | delins | 1 | |||
| rs797045367 | 1.000 | 0.160 | X | 78031399 | splice acceptor variant | G/A | snv | 1 | |||
| rs1557236762 | 0.925 | 0.240 | X | 78029445 | splice donor variant | G/A | snv | 2 | |||
| rs797045366 | 1.000 | 0.160 | X | 78029400 | inframe deletion | CATACTAATAAAAGG/- | delins | 1 | |||
| rs72554652 | 1.000 | 0.160 | X | 78029389 | missense variant | G/A | snv | 1 | |||
| rs1557236754 | 1.000 | 0.160 | X | 78029382 | missense variant | G/A | snv | 1 | |||
| rs72554651 | 1.000 | 0.160 | X | 78029350 | missense variant | T/C | snv | 1 | |||
| rs797045365 | 1.000 | 0.160 | X | 78029335 | missense variant | C/T | snv | 1 | |||
| rs72554650 | 1.000 | 0.160 | X | 78029289 | stop gained | C/T | snv | 1 | |||
| rs72554649 | 1.000 | 0.160 | X | 78029271 | stop gained | C/T | snv | 1 | |||
| rs797045364 | 1.000 | 0.160 | X | 78021080 | splice region variant | AAGT/- | delins | 1 | |||
| rs138958687 | 1.000 | 0.160 | X | 78021066 | missense variant | A/G | snv | 7.0E-04 | 4.6E-04 | 1 | |
| rs797045363 | 1.000 | 0.160 | X | 78020398 | missense variant | G/C | snv | 1 | |||
| rs797045362 | 1.000 | 0.160 | X | 78020367 | missense variant | T/A | snv | 1 | |||
| rs797045361 | 1.000 | 0.160 | X | 78020261 | frameshift variant | -/C | delins | 1 | |||
| rs72554646 | 1.000 | 0.160 | X | 78015873 | missense variant | T/G | snv | 1 |