| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1035024403 | 0.882 | 0.200 | 1 | 216048648 | splice acceptor variant | C/T | snv | 7.0E-06 | 3 | ||
| rs1057517533 | 0.925 | 0.200 | 1 | 215674648 | frameshift variant | GGAGAAG/- | delins | 2 | |||
| rs1057518826 | 0.925 | 0.200 | 1 | 215993103 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs1057519193 | 0.925 | 0.200 | 1 | 215759786 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
| rs1064793745 | 0.925 | 0.200 | 1 | 216199931 | stop gained | C/T | snv | 2 | |||
| rs1064797134 | 0.925 | 0.200 | 1 | 215878800 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
| rs111033262 | 1.000 | 0.200 | 1 | 215878965 | missense variant | A/G | snv | 8.3E-04 | 3.0E-04 | 1 | |
| rs111033263 | 0.882 | 0.200 | 1 | 215799066 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs111033264 | 0.882 | 0.200 | 1 | 215782762 | missense variant | A/G | snv | 2.4E-05 | 6.3E-05 | 3 | |
| rs111033268 | 0.925 | 0.200 | 1 | 216046454 | frameshift variant | TGCCTGAATAGATC/- | delins | 4.0E-06 | 7.0E-06 | 2 | |
| rs111033271 | 0.925 | 0.200 | 10 | 71793370 | missense variant | G/A | snv | 9.2E-05 | 9.8E-05 | 2 | |
| rs111033272 | 0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 | 7 | ||
| rs111033273 | 0.882 | 0.200 | 1 | 216321921 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 | 3 | |
| rs111033275 | 0.925 | 0.200 | 1 | 215675568 | missense variant | G/A | snv | 3.1E-04 | 5.4E-04 | 2 | |
| rs111033280 | 0.851 | 0.200 | 1 | 216327637 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 4 | |
| rs111033334 | 0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 | 9 | ||
| rs111033364 | 0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 | 7 | |
| rs111033367 | 0.882 | 0.200 | 1 | 216190280 | frameshift variant | AG/- | delins | 4.0E-06 | 7.0E-06 | 3 | |
| rs111033379 | 0.925 | 0.200 | 1 | 215782873 | stop gained | G/A;T | snv | 2.8E-05; 4.0E-06 | 2 | ||
| rs111033381 | 1.000 | 0.200 | 1 | 215674614 | missense variant | C/A | snv | 1.9E-02 | 1.9E-02 | 1 | |
| rs111033382 | 0.925 | 0.200 | 1 | 215759659 | splice donor variant | C/A;T | snv | 2 | |||
| rs111033385 | 0.925 | 0.200 | 1 | 215674781 | stop gained | G/A;T | snv | 8.0E-06 | 2 | ||
| rs111033418 | 0.925 | 0.200 | 1 | 215780023 | stop gained | G/A | snv | 2 | |||
| rs111033439 | 1.000 | 0.200 | 1 | 215782738 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
| rs111033450 | 1.000 | 0.200 | 1 | 216000541 | missense variant | T/C | snv | 5.9E-04 | 7.5E-04 | 1 |