| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1555314736 | 1.000 | 14 | 21402335 | splice donor variant | C/T | snv | 3 | ||||
| rs1555377234 | 1.000 | 14 | 77025641 | frameshift variant | A/- | delins | 3 | ||||
| rs1555392032 | 1.000 | 15 | 38339805 | frameshift variant | -/A | delins | 3 | ||||
| rs1555401440 | 1.000 | 15 | 26561149 | missense variant | G/A | snv | 3 | ||||
| rs1555528558 | 1.000 | 16 | 89283207 | frameshift variant | -/T | delins | 3 | ||||
| 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 | ||||
| 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 | ||||
| rs1555937168 | 1.000 | 0.080 | X | 71224099 | frameshift variant | TG/- | delins | 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 | ||||
| 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 | ||||
| rs397515440 | 1.000 | 14 | 31599310 | missense variant | G/T | snv | 2.0E-05 | 2.8E-05 | 3 | ||
| rs587777429 | 1.000 | 0.120 | 19 | 6496032 | missense variant | C/A;T | snv | 3 | |||
| rs587779406 | 1.000 | 0.120 | 15 | 72346552 | synonymous variant | G/A | snv | 8.0E-05 | 1.0E-04 | 3 | |
| rs730882175 | 1.000 | 0.120 | 1 | 210804143 | missense variant | C/T | snv | 3 |