| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| rs113624356 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 22 | |
| rs80338902 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 10 | |
| rs111033334 | 0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 | 9 | ||
| rs104893968 | 0.790 | 0.200 | 6 | 42173762 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-03 | 8 | ||
| rs111033258 | 0.851 | 0.200 | 3 | 150972565 | missense variant | A/C | snv | 2.7E-04 | 1.5E-04 | 7 | |
| rs111033364 | 0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 | 7 | |
| 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 | ||
| rs201527662 | 0.827 | 0.200 | 1 | 216246592 | missense variant | A/C | snv | 2.1E-04 | 6.3E-05 | 5 | |
| rs397518039 | 0.851 | 0.200 | 1 | 215877882 | splice acceptor variant | T/C | snv | 3.2E-05 | 5 | ||
| rs786200928 | 0.827 | 0.200 | 1 | 215891198 | intron variant | T/C | snv | 4.2E-05 | 5 | ||
| rs121909762 | 0.851 | 0.200 | 5 | 90690991 | stop gained | C/G;T | snv | 4.0E-06; 4.8E-05 | 4 | ||
| rs111033201 | 0.851 | 0.200 | 11 | 77174825 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.6E-05 | 4 | ||
| rs111033280 | 0.851 | 0.200 | 1 | 216327637 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 4 | |
| rs397518043 | 0.851 | 0.200 | 1 | 216325524 | frameshift variant | -/GCTG | delins | 4.0E-06; 5.6E-05 | 5.6E-05 | 4 | |
| rs727503731 | 0.851 | 0.200 | 1 | 216175368 | frameshift variant | -/T | delins | 1.2E-05; 4.0E-06 | 1.4E-05 | 4 | |
| rs145415848 | 0.882 | 0.200 | 15 | 78111171 | missense variant | C/G;T | snv | 4.0E-06; 1.4E-04 | 3 | ||
| rs397518013 | 0.882 | 0.200 | 1 | 216199890 | frameshift variant | AT/- | delins | 4.0E-06 | 3 | ||
| rs886039450 | 0.882 | 0.200 | 1 | 216207401 | frameshift variant | GT/- | delins | 2.1E-05 | 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 | ||
| rs750358148 | 0.925 | 0.200 | 11 | 77190117 | missense variant | C/A;G;T | snv | 1.1E-05; 1.1E-05 | 3 |