| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1341894581 | 0.925 | 2 | 232486499 | frameshift variant | ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- | delins | 3.3E-04 | 1.1E-04 | 3 | ||
| rs1350201776 | 20 | 45952244 | missense variant | C/T | snv | 4.0E-06 | 3 | ||||
| rs1376334317 | 0.925 | 3 | 136473546 | missense variant | C/T | snv | 3 | ||||
| rs1462161137 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 3 | |||
| rs147334255 | 1.000 | 22 | 27750995 | stop gained | G/A | snv | 3 | ||||
| rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
| rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
| rs1553353206 | 1.000 | 1 | 224398525 | frameshift variant | CATTTAACAA/- | delins | 3 | ||||
| rs1553479405 | 1.000 | 2 | 120989603 | frameshift variant | C/- | del | 3 | ||||
| rs1553521389 | 1.000 | 2 | 224503679 | frameshift variant | AG/- | delins | 3 | ||||
| rs1554062562 | 1.000 | 5 | 14359442 | stop gained | C/T | snv | 3 | ||||
| rs1554109707 | 1.000 | 5 | 180613051 | missense variant | C/G;T | snv | 3 | ||||
| rs1554117456 | 1.000 | 5 | 37245569 | stop gained | C/A | snv | 3 | ||||
| rs1554139771 | 5 | 88804732 | stop gained | CA/- | delins | 3 | |||||
| rs1554236054 | 1.000 | 6 | 157201481 | frameshift variant | -/G | delins | 3 | ||||
| rs1554728529 | 1.000 | 9 | 136508989 | frameshift variant | A/- | del | 3 | ||||
| rs1555046615 | 1.000 | 11 | 118503389 | frameshift variant | A/- | del | 3 | ||||
| rs1555248020 | 1.000 | 12 | 116009052 | stop gained | G/C | snv | 3 | ||||
| rs1555314736 | 1.000 | 14 | 21402335 | splice donor variant | C/T | snv | 3 | ||||
| rs1555377234 | 1.000 | 14 | 77025641 | frameshift variant | A/- | delins | 3 | ||||
| rs1555392032 | 1.000 | 15 | 38339805 | frameshift variant | -/A | delins | 3 | ||||
| rs1555528558 | 1.000 | 16 | 89283207 | frameshift variant | -/T | delins | 3 | ||||
| rs1555533842 | 1.000 | 17 | 31330303 | frameshift variant | -/C | delins | 3 | ||||
| rs1555535739 | 1.000 | 16 | 67626653 | stop gained | C/T | snv | 3 | ||||
| rs1555537637 | 1.000 | 17 | 4533107 | frameshift variant | CC/T | delins | 3 |