| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs80356682 | 0.790 | 0.120 | 1 | 209625721 | stop gained | G/A | snv | 5.1E-04 | 4.8E-04 | 7 | |
| rs772038362 | 0.882 | 0.200 | 18 | 23939301 | stop gained | C/T | snv | 1.2E-05 | 7.0E-06 | 3 | |
| rs1186161867 | 0.882 | 0.080 | 1 | 209628034 | splice donor variant | C/A;T | snv | 1.4E-05 | 3 | ||
| rs774174881 | 0.882 | 0.080 | 1 | 209629852 | stop gained | A/C | snv | 4.0E-06 | 3 | ||
| rs80356680 | 0.882 | 0.080 | 1 | 209650023 | stop gained | G/A | snv | 5.6E-05 | 6.3E-05 | 3 | |
| rs80356678 | 0.925 | 0.200 | 18 | 23873194 | frameshift variant | -/G | delins | 1.4E-05 | 2 | ||
| rs769967565 | 0.925 | 0.080 | 1 | 209627502 | frameshift variant | TG/- | del | 2.0E-05 | 3.5E-05 | 2 | |
| rs772421306 | 0.925 | 0.080 | 1 | 209618519 | frameshift variant | C/- | delins | 1.6E-05 | 1.4E-05 | 2 | |
| rs118203900 | 1.000 | 0.080 | 1 | 183228564 | stop gained | C/A | snv | 2 | |||
| rs118203901 | 0.925 | 0.080 | 1 | 183222181 | stop gained | C/T | snv | 2.1E-05 | 2 | ||
| rs1217053724 | 0.925 | 0.080 | 1 | 183243272 | stop gained | C/T | snv | 7.0E-06 | 2 | ||
| rs1057516279 | 1.000 | 0.080 | 18 | 23909296 | splice donor variant | G/A | snv | 7.0E-06 | 1 | ||
| rs1057516280 | 1.000 | 0.080 | 18 | 23903127 | splice donor variant | T/C | snv | 1 | |||
| rs1057516475 | 1.000 | 0.080 | 18 | 23881934 | splice acceptor variant | A/G | snv | 7.0E-06 | 1 | ||
| rs1057516476 | 1.000 | 0.080 | 18 | 23904583 | frameshift variant | G/- | delins | 1 | |||
| rs1057516512 | 1.000 | 0.080 | 18 | 23873135 | stop gained | C/T | snv | 1 | |||
| rs1057516584 | 1.000 | 0.080 | 18 | 23899067 | splice donor variant | T/C | snv | 1 | |||
| rs1057516605 | 1.000 | 0.080 | 18 | 23915319 | frameshift variant | A/- | delins | 1 | |||
| rs1057516688 | 1.000 | 0.080 | 18 | 23899431 | frameshift variant | GC/- | del | 1 | |||
| rs1057516764 | 1.000 | 0.080 | 18 | 23928765 | stop gained | G/A | snv | 1 | |||
| rs1057517023 | 1.000 | 0.080 | 18 | 23876408 | splice donor variant | G/A;T | snv | 1 | |||
| rs1057517196 | 1.000 | 0.080 | 18 | 23905614 | frameshift variant | GCTA/CCT | delins | 1 | |||
| rs1057517211 | 1.000 | 0.080 | 18 | 23939327 | frameshift variant | -/G | delins | 1 | |||
| rs1057517235 | 1.000 | 0.080 | 18 | 23881975 | frameshift variant | T/- | del | 1 | |||
| rs1057517272 | 1.000 | 0.080 | 18 | 23949764 | splice acceptor variant | G/C | snv | 1 |