Source: CURATED
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs118203998 | 0.790 | 0.400 | 16 | 23603471 | stop gained | G/C;T | snv | 1.6E-05; 4.0E-06 | 8 | ||
| rs1567204928 | 1.000 | 0.080 | 16 | 23603476 | frameshift variant | -/AA | delins | 1 | |||
| rs1567204932 | 1.000 | 0.080 | 16 | 23603477 | frameshift variant | AATA/- | delins | 1 | |||
| rs1555457841 | 1.000 | 0.080 | 16 | 23603497 | stop gained | G/A | snv | 1 | |||
| rs587776428 | 1.000 | 0.080 | 16 | 23603512 | frameshift variant | AG/- | delins | 2 | |||
| rs180177138 | 0.925 | 0.080 | 16 | 23603523 | frameshift variant | C/- | delins | 2 | |||
| rs773829275 | 1.000 | 0.080 | 16 | 23603526 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs587782217 | 1.000 | 0.080 | 16 | 23603528 | stop gained | C/A;T | snv | 2.8E-05 | 1 | ||
| rs879254113 | 1.000 | 0.080 | 16 | 23603529 | stop gained | C/T | snv | 2 | |||
| rs587776426 | 1.000 | 0.080 | 16 | 23603563 | frameshift variant | -/T | delins | 2 | |||
| rs879254033 | 1.000 | 0.080 | 16 | 23603584 | stop gained | G/A;C;T | snv | 1 | |||
| rs1057517563 | 1.000 | 0.080 | 16 | 23603595 | frameshift variant | A/- | delins | 1 | |||
| rs878855118 | 1.000 | 0.080 | 16 | 23603600 | stop gained | C/T | snv | 1 | |||
| rs515726117 | 0.925 | 0.160 | 16 | 23603658 | frameshift variant | C/- | delins | 4.0E-06 | 3 | ||
| rs1060502764 | 1.000 | 0.080 | 16 | 23603671 | splice acceptor variant | T/C | snv | 1 | |||
| rs180177136 | 1.000 | 0.080 | 16 | 23607860 | splice region variant | T/C;G | snv | 4.0E-06 | 2 | ||
| rs876659859 | 1.000 | 0.080 | 16 | 23607864 | missense variant | C/T | snv | 2 | |||
| rs1567206756 | 1.000 | 0.080 | 16 | 23607874 | stop gained | G/A | snv | 2 | |||
| rs1218512317 | 1.000 | 0.080 | 16 | 23607890 | stop gained | G/C;T | snv | 4.0E-06 | 1 | ||
| rs180177135 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 27 | ||
| rs1555458187 | 1.000 | 0.080 | 16 | 23607907 | frameshift variant | -/GCTGAGAG | delins | 1 | |||
| rs1567206804 | 1.000 | 0.080 | 16 | 23607911 | frameshift variant | AG/- | delins | 1 | |||
| rs1567206813 | 1.000 | 0.080 | 16 | 23607913 | frameshift variant | AGTCG/- | delins | 1 | |||
| rs1567206823 | 1.000 | 0.080 | 16 | 23607916 | frameshift variant | -/A | ins | 1 | |||
| rs864622138 | 1.000 | 0.080 | 16 | 23607943 | stop gained | G/A | snv | 2 |