| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs730882231 | 1.000 | 0.040 | 2 | 201629229 | splice donor variant | C/T | snv | 1 | |||
| rs386833760 | 0.790 | 0.360 | 4 | 15587929 | splice donor variant | G/- | delins | 1.9E-04 | 11 | ||
| rs386833750 | 0.807 | 0.360 | 4 | 15563485 | stop gained | C/A;G;T | snv | 2.0E-05; 2.0E-05 | 6 | ||
| rs370880399 | 0.827 | 0.360 | 4 | 15563395 | stop gained | C/T | snv | 1.0E-04 | 1.0E-04 | 5 | |
| rs781252161 | 0.827 | 0.360 | 4 | 15533284 | stop gained | C/T | snv | 1.8E-05 | 7.0E-06 | 5 | |
| rs386833751 | 0.851 | 0.320 | 4 | 15567676 | splice acceptor variant | G/- | delins | 4 | |||
| rs386833759 | 0.851 | 0.320 | 4 | 15580171 | splice region variant | AGTA/- | delins | 7.0E-06 | 4 | ||
| rs200407856 | 0.882 | 0.320 | 4 | 15516005 | splice donor variant | G/A | snv | 4.7E-05 | 7.7E-05 | 3 | |
| rs201502401 | 0.882 | 0.320 | 4 | 15599699 | missense variant | A/T | snv | 2.0E-04 | 2.0E-04 | 3 | |
| rs757208121 | 0.882 | 0.200 | 4 | 15527564 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 3 | |
| rs797045437 | 0.882 | 0.320 | 4 | 15597432 | frameshift variant | GACA/- | delins | 3 | |||
| rs758036385 | 0.925 | 0.200 | 4 | 15586169 | stop gained | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
| rs368720062 | 1.000 | 0.040 | 4 | 15596154 | missense variant | T/C | snv | 1.3E-05 | 7.0E-06 | 1 | |
| rs377177061 | 1.000 | 0.040 | 4 | 15502879 | stop gained | C/G;T | snv | 4.1E-06; 2.9E-05 | 1 | ||
| rs587779732 | 1.000 | 0.040 | 4 | 15596177 | missense variant | C/A;G;T | snv | 3.2E-05 | 1 | ||
| rs730882232 | 1.000 | 0.040 | 4 | 5562881 | inframe insertion | -/GCATTCAAAAAGTTCTTCTTTTTC | delins | 4.0E-06 | 1 | ||
| rs886039792 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 9 | |||
| rs886039791 | 0.882 | 0.160 | 5 | 134893572 | inframe deletion | AGTTTGGCCCCTCAC/- | delins | 5 | |||
| rs730882233 | 1.000 | 0.040 | 7 | 133817543 | missense variant | A/G | snv | 1 | |||
| rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
| rs386834180 | 0.776 | 0.360 | 8 | 93781725 | missense variant | T/C | snv | 2.0E-05 | 4.2E-05 | 8 | |
| rs863225235 | 0.790 | 0.360 | 8 | 93782444 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
| rs775883520 | 0.851 | 0.240 | 8 | 93780603 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 6 | |
| rs267607119 | 0.827 | 0.360 | 8 | 93808898 | missense variant | T/C | snv | 4.0E-05 | 8.4E-05 | 5 | |
| rs765468645 | 0.882 | 0.160 | 8 | 93765413 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 5 |