| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs145457535 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 3 | |
| rs577069249 | 3 | 180650140 | intron variant | T/C | snv | 5.0E-04 | 1 | ||||
| rs151107532 | 0.925 | 0.160 | 21 | 42486463 | splice acceptor variant | T/G | snv | 3.7E-04 | 4.7E-04 | 3 | |
| rs200488444 | 1.000 | 0.160 | 9 | 34490011 | splice acceptor variant | G/C | snv | 4.1E-04 | 4.5E-04 | 2 | |
| rs139519641 | 16 | 84174723 | splice donor variant | G/A | snv | 4.2E-04 | 4.0E-04 | 1 | |||
| rs397515393 | 1.000 | 0.120 | 17 | 80039966 | frameshift variant | C/- | del | 4.4E-04 | 2.9E-04 | 2 | |
| rs869320683 | 0.925 | 0.160 | 6 | 116623002 | splice region variant | AAGT/- | delins | 2.7E-04 | 3 | ||
| rs147718607 | 0.925 | 0.160 | 19 | 48303953 | missense variant | C/T | snv | 2.4E-04 | 2.2E-04 | 3 | |
| rs397515540 | 1.000 | 0.160 | 5 | 13753290 | frameshift variant | A/- | del | 1.6E-04 | 2.1E-04 | 2 | |
| rs138815960 | 0.925 | 0.160 | 3 | 50345533 | splice donor variant | A/C | snv | 2.7E-04 | 2.1E-04 | 3 | |
| rs746361802 | 21 | 32603260 | frameshift variant | -/GCCTCTGCCT | delins | 1.8E-04; 2.4E-05 | 2.1E-04 | 1 | |||
| rs144711161 | 6 | 38899907 | splice donor variant | G/A | snv | 8.4E-05 | 1.3E-04 | 1 | |||
| rs200321595 | 1.000 | 8 | 132632957 | missense variant | C/G | snv | 1.6E-04 | 1.0E-04 | 2 | ||
| rs587621539 | 1.000 | 3 | 50345495 | missense variant | A/G | snv | 2.2E-05 | 9.8E-05 | 1 | ||
| rs543369426 | 19 | 55166064 | splice acceptor variant | C/T | snv | 2.0E-05 | 9.1E-05 | 1 | |||
| rs143740376 | 0.925 | 0.160 | 21 | 32609853 | stop gained | G/A | snv | 7.6E-05 | 8.4E-05 | 3 | |
| rs775696136 | 5 | 13701316 | frameshift variant | -/A | delins | 6.4E-05 | 8.4E-05 | 1 | |||
| rs902156961 | 14 | 49633990 | frameshift variant | -/CCCC | delins | 1.7E-05; 8.5E-06 | 8.4E-05 | 1 | |||
| rs201943194 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 38 | |
| rs756235547 | 3 | 180659582 | splice acceptor variant | T/C | snv | 1.2E-04 | 8.4E-05 | 1 | |||
| rs145974361 | 6 | 38860630 | splice donor variant | G/A | snv | 5.9E-05 | 8.0E-05 | 1 | |||
| rs368260932 | 1.000 | 0.160 | 7 | 21749702 | stop gained | C/T | snv | 4.4E-05 | 7.7E-05 | 2 | |
| rs727502974 | 5 | 13792055 | missense variant | T/C | snv | 2.4E-05 | 7.7E-05 | 1 | |||
| rs397515392 | 1.000 | 0.120 | 3 | 180661860 | splice donor variant | C/G | snv | 1.6E-04 | 7.0E-05 | 2 | |
| rs201133219 | 1.000 | 19 | 48297995 | splice region variant | C/T | snv | 8.0E-05 | 7.0E-05 | 2 |