| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1554703119 | 1.000 | 0.160 | 9 | 97697120 | splice donor variant | C/A;T | snv | 1 | |||
| rs1554703183 | 1.000 | 0.160 | 9 | 97697267 | start lost | AAAGCCCCGTCGGCCGCCGCCATCTCTGGC/- | delins | 1 | |||
| rs746617574 | 1.000 | 0.160 | 9 | 97687096 | missense variant | C/G | snv | 1.2E-05 | 2.1E-05 | 1 | |
| rs748286715 | 1.000 | 0.160 | 9 | 97689584 | frameshift variant | CA/- | del | 8.0E-06 | 1 | ||
| rs750218942 | 1.000 | 0.160 | 9 | 97687262 | splice acceptor variant | C/G | snv | 1.2E-05 | 1 | ||
| rs752573039 | 1.000 | 0.160 | 9 | 97675486 | frameshift variant | -/A | delins | 2.0E-05 | 2.1E-05 | 1 | |
| rs755803064 | 1.000 | 0.160 | 9 | 97684997 | stop gained | A/C;G | snv | 7.6E-05 | 7.0E-06 | 1 | |
| rs761978351 | 1.000 | 0.160 | 9 | 97684950 | stop gained | G/A | snv | 8.0E-06; 8.0E-06 | 2.1E-05 | 1 | |
| rs764582394 | 1.000 | 0.160 | 9 | 97684950 | frameshift variant | -/TTTC | delins | 1 | |||
| rs779161471 | 1.000 | 0.160 | 9 | 97697283 | frameshift variant | C/- | delins | 7.0E-06 | 1 | ||
| rs781195170 | 1.000 | 0.160 | 9 | 97687174 | frameshift variant | CTCT/-;CT | delins | 1 | |||
| rs786205205 | 1.000 | 0.160 | 9 | 97687105 | frameshift variant | -/TA | ins | 1 | |||
| rs886039226 | 1.000 | 0.160 | 9 | 97689585 | stop gained | ATAA/TTTCTTATG | delins | 1 | |||
| rs869025275 | 1.000 | 0.160 | 3 | 14152417 | splice acceptor variant | C/T | snv | 1 | |||
| rs1402607735 | 0.925 | 0.160 | 19 | 43575436 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
| rs104894132 | 0.925 | 0.160 | 9 | 97675579 | stop gained | G/A | snv | 3.0E-04 | 3.2E-04 | 2 | |
| rs104894133 | 1.000 | 0.160 | 9 | 97684977 | stop gained | G/A | snv | 2.4E-05 | 2 | ||
| rs1200172747 | 0.925 | 0.160 | 9 | 97689570 | frameshift variant | TAAGA/- | delins | 4.0E-06 | 2.1E-05 | 2 | |
| rs149226993 | 0.925 | 0.160 | 9 | 97684965 | stop gained | G/A | snv | 4.0E-06 | 2 | ||
| rs1554701103 | 0.925 | 0.160 | 9 | 97684929 | frameshift variant | -/T | delins | 2 | |||
| rs769255883 | 1.000 | 0.160 | 9 | 97689592 | stop gained | C/A;G;T | snv | 1.2E-05; 5.6E-05 | 2 | ||
| rs778990691 | 0.807 | 0.240 | 5 | 87395069 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
| rs767551092 | 0.790 | 0.200 | 3 | 14164838 | missense variant | G/A | snv | 4.0E-06 | 10 | ||
| rs776223836 | 0.763 | 0.280 | 19 | 45364045 | missense variant | G/A | snv | 11 | |||
| rs1805329 | 0.732 | 0.400 | 9 | 107322047 | missense variant | C/T | snv | 0.20 | 0.16 | 15 |