| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs141945265 | 1.000 | 8 | 132632819 | stop gained | G/A;C | snv | 1.2E-05; 1.5E-03 | 2 | |||
| rs145457535 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 3 | |
| rs121908854 | 1.000 | 7 | 21748602 | stop gained | C/A;G;T | snv | 1.2E-03; 4.7E-06 | 2 | |||
| rs148891849 | 5 | 13841895 | stop gained | G/A;C;T | snv | 2.2E-05; 8.0E-04; 4.3E-06 | 1 | ||||
| rs141581673 | 17 | 74312024 | stop gained | C/A;T | snv | 4.5E-04; 1.6E-05 | 1 | ||||
| rs397515393 | 1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 | 2 | |
| rs139519641 | 16 | 84174723 | splice donor variant | G/A | snv | 4.2E-04 | 4.0E-04 | 1 | |||
| rs200488444 | 1.000 | 0.160 | 9 | 34490011 | splice acceptor variant | G/C | snv | 4.1E-04 | 4.5E-04 | 2 | |
| rs116938457 | 9 | 34489431 | missense variant | C/G;T | snv | 4.1E-04 | 1 | ||||
| rs142371860 | 0.925 | 0.160 | 2 | 26421396 | stop gained | C/A;T | snv | 3.9E-04 | 3 | ||
| rs151107532 | 0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 | 3 | |
| rs138815960 | 0.925 | 0.160 | 3 | 50345533 | splice donor variant | A/C | snv | 2.7E-04 | 2.1E-04 | 3 | |
| rs200382776 | 1.000 | 0.160 | 21 | 42477286 | splice region variant | C/T | snv | 2.6E-04 | 6.6E-05 | 2 | |
| rs138320978 | 0.925 | 0.160 | 21 | 42493049 | stop gained | C/A;T | snv | 2.6E-04; 2.0E-05 | 3 | ||
| rs147718607 | 0.925 | 0.160 | 19 | 48303953 | missense variant | C/T | snv | 2.4E-04 | 2.2E-04 | 3 | |
| rs200913791 | 0.925 | 0.160 | 3 | 50342473 | missense variant | A/G | snv | 2.0E-04 | 3.5E-05 | 3 | |
| rs746361802 | 21 | 32603260 | frameshift variant | -/GCCTCTGCCT | delins | 1.8E-04; 2.4E-05 | 2.1E-04 | 1 | |||
| rs397515540 | 1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 | 2 | |
| rs752924362 | 1.000 | 0.160 | 17 | 74309345 | stop gained | G/A;C | snv | 1.6E-04; 4.0E-06 | 2 | ||
| rs200321595 | 1.000 | 8 | 132632957 | missense variant | C/G | snv | 1.6E-04 | 1.0E-04 | 2 | ||
| rs397515392 | 1.000 | 0.120 | 3 | 180661860 | splice donor variant | C/G | snv | 1.6E-04 | 7.0E-05 | 2 | |
| rs587777502 | 0.925 | 0.160 | 5 | 55233256 | frameshift variant | -/TGGGC | delins | 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05 | 3 | ||
| rs532007878 | 7 | 21616294 | splice donor variant | C/A;T | snv | 1.3E-04 | 1 | ||||
| rs756235547 | 3 | 180659582 | splice acceptor variant | T/C | snv | 1.2E-04 | 8.4E-05 | 1 | |||
| rs775051461 | 1.000 | 5 | 55231790 | missense variant | A/G | snv | 9.8E-05 | 6.3E-05 | 1 |