| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs267606640 | 0.882 | 0.120 | 1 | 99913557 | stop gained | G/A | snv | 5.6E-05 | 5.6E-05 | 5 | |
| rs113994126 | 0.882 | 0.080 | 1 | 99851058 | stop gained | C/T | snv | 1.6E-05; 4.4E-05 | 2.8E-05 | 3 | |
| rs118203964 | 0.882 | 0.080 | 1 | 99916492 | missense variant | G/C | snv | 3 | |||
| rs369973784 | 0.882 | 0.080 | 1 | 99916398 | intron variant | A/G | snv | 5.8E-05 | 5.6E-05 | 3 | |
| rs113994127 | 0.925 | 0.080 | 1 | 99851059 | frameshift variant | GA/- | delins | 7.0E-05 | 2 | ||
| rs113994128 | 0.925 | 0.080 | 1 | 99875394 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 | 2 | |
| rs113994129 | 0.925 | 0.080 | 1 | 99881329 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 | 2 | |
| rs113994131 | 0.925 | 0.080 | 1 | 99902776 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 2 | ||
| rs113994132 | 0.925 | 0.080 | 1 | 99913542 | frameshift variant | T/- | del | 4.2E-05 | 2 | ||
| rs113994134 | 0.925 | 0.080 | 1 | 99916704 | frameshift variant | T/- | delins | 2 | |||
| rs12118058 | 1.000 | 0.080 | 1 | 99916709 | stop gained | C/G;T | snv | 3.6E-05 | 1.0E-04 | 2 | |
| rs193186112 | 0.925 | 0.080 | 1 | 99861676 | stop gained | C/T | snv | 4.8E-05 | 1.4E-04 | 2 | |
| rs199922945 | 0.925 | 0.080 | 1 | 99880047 | splice donor variant | G/T | snv | 1.2E-05 | 2 | ||
| rs267606639 | 0.925 | 0.080 | 1 | 99900712 | missense variant | A/G | snv | 2 | |||
| rs370792293 | 0.925 | 0.080 | 1 | 99864592 | splice region variant | A/G | snv | 1.6E-05 | 1.4E-05 | 2 | |
| rs387906244 | 0.925 | 0.080 | 1 | 99921580 | stop gained | -/A | delins | 2 | |||
| rs755747010 | 1.000 | 0.080 | 1 | 99870764 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs771069887 | 0.925 | 0.080 | 1 | 99892562 | frameshift variant | GA/- | delins | 2.8E-05 | 2 | ||
| rs780504025 | 0.925 | 0.080 | 1 | 99915491 | splice region variant | G/A | snv | 4.0E-06 | 2 | ||
| rs786204481 | 0.925 | 0.080 | 1 | 99884119 | splice acceptor variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |
| rs1057516254 | 1.000 | 0.080 | 1 | 99884627 | stop gained | C/T | snv | 1 | |||
| rs1057516306 | 1.000 | 0.080 | 1 | 99891665 | frameshift variant | C/- | delins | 1 | |||
| rs1057516308 | 1.000 | 0.080 | 1 | 99862307 | frameshift variant | TGCTGATAATCATGTGCTACCCTTGG/- | delins | 1 | |||
| rs1057516397 | 1.000 | 0.080 | 1 | 99862405 | frameshift variant | A/- | del | 1 | |||
| rs1057516471 | 1.000 | 0.080 | 1 | 99870406 | frameshift variant | -/T | delins | 1 |