Source: ALL
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
| 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 | ||
| rs111033272 | 0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 | 7 | ||
| rs111033364 | 0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 | 7 | |
| rs199679165 | 0.827 | 0.200 | 1 | 216097196 | stop gained | G/A | snv | 1.6E-05 | 6 | ||
| rs876657731 | 0.807 | 0.200 | 1 | 216073096 | splice donor variant | C/T | snv | 1.2E-05 | 6 | ||
| rs483353055 | 0.827 | 0.200 | 1 | 216200031 | missense variant | C/T | snv | 6 | |||
| 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 | ||
| rs398124619 | 0.851 | 0.200 | 1 | 215970720 | stop gained | C/A | snv | 8.0E-06 | 2.8E-05 | 5 | |
| rs786200928 | 0.827 | 0.200 | 1 | 215891198 | intron variant | T/C | snv | 4.2E-05 | 5 | ||
| rs111033280 | 0.851 | 0.200 | 1 | 216327637 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 4 | |
| rs146733615 | 0.851 | 0.200 | 1 | 215640723 | stop gained | G/A | snv | 1.2E-05 | 1.4E-05 | 4 | |
| rs368049814 | 0.851 | 0.200 | 1 | 215786715 | missense variant | C/T | snv | 3.6E-05 | 7.7E-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 | |
| rs397518011 | 0.925 | 0.200 | 1 | 216207280 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 3 | |
| rs397518013 | 0.882 | 0.200 | 1 | 216199890 | frameshift variant | AT/- | delins | 4.0E-06 | 3 | ||
| rs746551311 | 0.882 | 0.200 | 1 | 216196582 | stop gained | G/A | snv | 6.0E-05 | 7.0E-06 | 3 | |
| rs886039450 | 0.882 | 0.200 | 1 | 216207401 | frameshift variant | GT/- | delins | 2.1E-05 | 3 | ||
| rs1035024403 | 0.882 | 0.200 | 1 | 216048648 | splice acceptor variant | C/T | snv | 7.0E-06 | 3 | ||
| 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 | |
| rs111033273 | 0.882 | 0.200 | 1 | 216321921 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 | 3 |