| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs116128702 | 1.000 | 5 | 13923369 | stop gained | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 4 | |||
| rs1247427997 | 1.000 | 1 | 165743244 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 4 | |||
| rs1304422857 | 1.000 | 12 | 109511304 | splice donor variant | G/A;T | snv | 3 | ||||
| rs1313319892 | 1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 | 3 | |||
| rs1314314373 | 1.000 | 14 | 99176115 | stop gained | G/A;C | snv | 4.1E-06 | 4 | |||
| rs1462161137 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 3 | |||
| rs147334255 | 1.000 | 22 | 27750995 | stop gained | G/A | snv | 3 | ||||
| rs150940923 | 1.000 | 0.240 | 16 | 3027170 | missense variant | G/C | snv | 1.8E-04 | 2.0E-04 | 3 | |
| rs1553212626 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 3 | ||||
| rs1553212978 | 1.000 | 1 | 151406322 | frameshift variant | -/T | delins | 3 | ||||
| rs1553249737 | 1.000 | 1 | 165743263 | stop gained | G/T | snv | 4 | ||||
| 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 | ||||
| rs1553631770 | 1.000 | 3 | 41233398 | missense variant | A/T | snv | 4 | ||||
| rs1554109707 | 1.000 | 5 | 180613051 | missense variant | C/G;T | snv | 3 | ||||
| rs1554117456 | 1.000 | 5 | 37245569 | stop gained | C/A | snv | 3 | ||||
| rs1554200990 | 1.000 | 6 | 121446960 | missense variant | G/C | snv | 4 | ||||
| rs1554599036 | 1.000 | 8 | 60828698 | frameshift variant | GAACACTGTGGAAGAAC/- | del | 4 | ||||
| rs1554728529 | 1.000 | 9 | 136508989 | 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 |