| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1557720377 | 1.000 | 0.200 | 1 | 6457224 | inframe deletion | GGCGGGACCTCCTGCGGA/- | delins | 1 | |||
| rs121908143 | 0.827 | 0.200 | 3 | 150972591 | missense variant | A/C;G | snv | 8.0E-05; 4.0E-06 | 6 | ||
| rs111033267 | 0.851 | 0.200 | 3 | 150972520 | stop gained | G/A;T | snv | 1.2E-05; 1.2E-05 | 5 | ||
| rs1057519383 | 1.000 | 0.200 | 5 | 90790948 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||
| rs111033260 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 7 | ||
| rs397517451 | 0.882 | 0.200 | 10 | 54664247 | frameshift variant | A/- | delins | 3 | |||
| rs796051861 | 0.882 | 0.200 | 10 | 71510125 | frameshift variant | C/- | delins | 3 | |||
| rs375907609 | 1.000 | 0.200 | 10 | 71811364 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 1 | ||
| rs397515566 | 1.000 | 0.200 | 10 | 54369199 | frameshift variant | -/C | delins | 1 | |||
| rs876657418 | 1.000 | 0.200 | 10 | 54378943 | splice acceptor variant | C/T | snv | 1 | |||
| rs111033178 | 0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 | 6 | |
| rs151045328 | 0.851 | 0.200 | 11 | 17531431 | synonymous variant | C/T | snv | 3.6E-05 | 2.1E-05 | 5 | |
| rs397515359 | 0.827 | 0.200 | 11 | 17531408 | frameshift variant | -/G | delins | 1.8E-04 | 5 | ||
| rs111033201 | 0.851 | 0.200 | 11 | 77174825 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 4 | ||
| rs35689081 | 0.851 | 0.200 | 11 | 77142783 | stop gained | C/A;T | snv | 3.7E-05; 3.6E-03 | 4 | ||
| rs750647872 | 0.851 | 0.200 | 11 | 77192132 | stop gained | C/T | snv | 3.2E-05 | 4 | ||
| rs1057517857 | 0.882 | 0.200 | 11 | 77190113 | stop gained | C/T | snv | 3 | |||
| rs111033180 | 0.882 | 0.200 | 11 | 77172850 | stop gained | C/A;T | snv | 1.4E-05 | 3 | ||
| rs111033214 | 0.882 | 0.200 | 11 | 77189348 | missense variant | G/A | snv | 2.0E-05 | 4.2E-05 | 3 | |
| rs111033283 | 0.882 | 0.200 | 11 | 77156909 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
| rs111033347 | 0.882 | 0.200 | 11 | 77190709 | frameshift variant | A/- | delins | 3 | |||
| rs1199012623 | 0.882 | 0.200 | 11 | 77199804 | frameshift variant | A/- | del | 8.3E-06 | 3 | ||
| rs121908370 | 0.882 | 0.200 | 11 | 17533268 | stop gained | G/A;C | snv | 1.2E-05; 4.0E-05 | 3 | ||
| rs121965085 | 0.882 | 0.200 | 11 | 77174816 | stop gained | C/T | snv | 1.6E-05 | 3.5E-05 | 3 | |
| rs1253943370 | 0.925 | 0.200 | 11 | 77189416 | stop gained | G/A | snv | 3 |