| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555533842 | 1.000 | 17 | 31330303 | frameshift variant | -/C | delins | 3 | ||||
| rs1555537637 | 1.000 | 17 | 4533107 | frameshift variant | CC/T | delins | 3 | ||||
| rs1555682938 | 1.000 | 18 | 62102822 | frameshift variant | T/- | delins | 3 | ||||
| rs1555742500 | 0.925 | 18 | 33739379 | frameshift variant | GACA/- | delins | 3 | ||||
| rs1555859593 | 1.000 | 19 | 41970483 | missense variant | G/T | snv | 3 | ||||
| rs1555912285 | 1.000 | 20 | 32435475 | frameshift variant | TGTTGAGC/CAA | delins | 3 | ||||
| rs1555923822 | 1.000 | 22 | 42210236 | frameshift variant | -/T | delins | 3 | ||||
| rs1555926209 | 1.000 | 22 | 42213082 | stop gained | G/A | snv | 3 | ||||
| rs1555934843 | 1.000 | X | 19357651 | splice acceptor variant | G/A | snv | 3 | ||||
| rs1556019107 | 1.000 | X | 134415106 | stop gained | C/T | snv | 3 | ||||
| rs1556235119 | 1.000 | X | 119574712 | start lost | A/G | snv | 3 | ||||
| rs1556779417 | 1.000 | X | 47181541 | frameshift variant | GT/- | delins | 3 | ||||
| rs1557099144 | 1.000 | X | 53985131 | frameshift variant | -/C | delins | 3 | ||||
| rs201889294 | 0.925 | 6 | 98899282 | stop gained | G/A;T | snv | 4.0E-05 | 3 | |||
| rs368820286 | 1.000 | 5 | 126549924 | splice region variant | C/T | snv | 2.0E-05 | 1.4E-05 | 3 | ||
| rs372754256 | 1.000 | 1 | 152307855 | stop gained | G/C | snv | 4.7E-04 | 9.8E-05 | 3 | ||
| rs397514655 | 1.000 | 5 | 88804743 | missense variant | A/G;T | snv | 3 | ||||
| rs397515417 | 0.925 | X | 72462077 | missense variant | G/A | snv | 5.5E-06 | 3 | |||
| rs397515440 | 1.000 | 14 | 31599310 | missense variant | G/T | snv | 2.0E-05 | 2.8E-05 | 3 | ||
| rs587777644 | 0.925 | 17 | 76733060 | frameshift variant | CACT/- | delins | 3 | ||||
| rs746765465 | 1.000 | 17 | 40089359 | frameshift variant | C/- | delins | 3 | ||||
| rs747661902 | 1.000 | 16 | 578404 | frameshift variant | TG/- | del | 2.8E-05 | 2.1E-05 | 3 | ||
| rs747947002 | 0.925 | 17 | 60656795 | frameshift variant | AA/-;A;AAA | delins | 3 | ||||
| rs754142863 | 0.925 | 6 | 98899281 | missense variant | C/A;T | snv | 1.6E-05 | 3 | |||
| rs757347274 | 0.925 | 1 | 235470849 | splice donor variant | C/T | snv | 4.8E-05 | 1.4E-05 | 3 |