| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs886041185 | 0.925 | 0.320 | 8 | 99835295 | frameshift variant | -/A | delins | 4 | |||
| rs1554884733 | 1.000 | 8 | 99641974 | frameshift variant | -/GTCC | delins | 3 | ||||
| rs587777744 | 1.000 | 4 | 99553814 | missense variant | C/T | snv | 2 | ||||
| rs120074152 | 0.925 | 0.320 | 8 | 99384294 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
| rs386834070 | 0.851 | 0.360 | 8 | 99134644 | stop gained | C/T | snv | 9 | |||
| rs1182326570 | 0.925 | 6 | 98926883 | stop gained | T/A | snv | 8.0E-06 | 3 | |||
| rs201889294 | 0.925 | 6 | 98899282 | stop gained | G/A;T | snv | 4.0E-05 | 3 | |||
| rs754142863 | 0.925 | 6 | 98899281 | missense variant | C/A;T | snv | 1.6E-05 | 3 | |||
| rs772037717 | 0.882 | 0.080 | 6 | 98875675 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 8 | |
| rs762904815 | 1.000 | 3 | 9744394 | frameshift variant | C/-;CC;CCC | delins | 3 | ||||
| rs1553693712 | 1.000 | 3 | 9734167 | frameshift variant | TT/- | delins | 2 | ||||
| rs863225045 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 15 | |||
| rs781768965 | 1.000 | 9 | 95508175 | stop gained | C/A;G | snv | 4.0E-06 | 3 | |||
| rs1554708787 | 1.000 | 9 | 95506567 | stop gained | C/T | snv | 3 | ||||
| rs797044953 | 1.000 | 3 | 9447684 | splice acceptor variant | A/T | snv | 3 | ||||
| rs397514481 | 0.882 | 0.040 | 20 | 9409080 | missense variant | G/A;T | snv | 5 | |||
| rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
| rs775883520 | 0.851 | 0.240 | 8 | 93780603 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 6 | |
| rs1554074684 | 1.000 | 0.160 | 5 | 93585448 | missense variant | G/A;T | snv | 2 | |||
| rs750331613 | 0.882 | 0.040 | 4 | 93515346 | missense variant | C/T | snv | 4.8E-05 | 2.1E-05 | 5 | |
| rs140119177 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 7 | |
| rs1554863016 | 0.882 | 0.240 | 10 | 92648211 | splice acceptor variant | G/A | snv | 5 | |||
| rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 41 | |
| rs1555529297 | 1.000 | 16 | 89284412 | stop gained | C/T | snv | 2 |