| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs386833707 | 1.000 | 0.120 | 16 | 28477561 | frameshift variant | C/- | delins | 1 | |||
| rs386833706 | 1.000 | 0.120 | 16 | 28477565 | stop gained | G/A;T | snv | 8.0E-06 | 1 | ||
| rs386833703 | 1.000 | 0.120 | 16 | 28477586 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs386833702 | 1.000 | 0.120 | 16 | 28477636 | splice acceptor variant | C/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs386833701 | 1.000 | 0.120 | 16 | 28477739 | stop gained | C/A;G | snv | 4.0E-06 | 1 | ||
| rs142456044 | 1.000 | 0.120 | 16 | 28477818 | stop gained | G/A;C | snv | 1.2E-05 | 2.8E-05 | 1 | |
| rs1555467473 | 1.000 | 0.120 | 16 | 28477866 | frameshift variant | -/A | delins | 1 | |||
| rs1057516677 | 0.925 | 0.120 | 16 | 28477875 | stop gained | G/T | snv | 2 | |||
| rs386833698 | 0.925 | 0.120 | 16 | 28482102 | splice region variant | T/G | snv | 2 | |||
| rs386833699 | 1.000 | 0.120 | 16 | 28482105 | missense variant | C/G | snv | 1 | |||
| rs386833697 | 1.000 | 0.120 | 16 | 28482107 | stop gained | G/A | snv | 8.1E-06 | 2.1E-05 | 1 | |
| rs386833696 | 1.000 | 0.120 | 16 | 28482113 | frameshift variant | G/- | delins | 1 | |||
| rs386833695 | 0.925 | 0.120 | 16 | 28482160 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 2 | |
| rs386833694 | 0.925 | 0.120 | 16 | 28482161 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
| rs386833744 | 0.925 | 0.160 | 16 | 28482173 | missense variant | C/A;T | snv | 2.0E-05 | 2 | ||
| rs386833743 | 1.000 | 0.120 | 16 | 28482182 | stop gained | G/A | snv | 1 | |||
| rs386833742 | 1.000 | 0.120 | 16 | 28482199 | splice acceptor variant | C/A;T | snv | 1 | |||
| rs1418997146 | 1.000 | 0.120 | 16 | 28482200 | splice acceptor variant | T/G | snv | 1 | |||
| rs386833741 | 1.000 | 0.120 | 16 | 28482309 | splice donor variant | CCTCGCTCCTCTTACCAGCGGTATTGC/- | delins | 2.1E-05 | 1 | ||
| rs1057516267 | 1.000 | 0.120 | 16 | 28482326 | splice donor variant | C/T | snv | 1 | |||
| rs386833740 | 0.925 | 0.120 | 16 | 28482344 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06 | 2 | ||
| rs386833739 | 1.000 | 0.120 | 16 | 28482472 | splice region variant | C/T | snv | 1 | |||
| rs771788391 | 1.000 | 0.120 | 16 | 28482475 | splice donor variant | A/T | snv | 8.0E-06 | 1 | ||
| rs121434286 | 0.882 | 0.120 | 16 | 28482500 | stop gained | C/A;T | snv | 2.4E-05 | 3 | ||
| rs1057517350 | 1.000 | 0.120 | 16 | 28482673 | splice acceptor variant | C/T | snv | 1 |