| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1057516267 | 1.000 | 0.120 | 16 | 28482326 | splice donor variant | C/T | snv | 1 | |||
| rs1057516335 | 1.000 | 0.120 | 16 | 28484112 | frameshift variant | -/A | delins | 1 | |||
| rs1057516343 | 1.000 | 0.120 | 16 | 28491713 | splice donor variant | C/G;T | snv | 1 | |||
| rs1057517215 | 1.000 | 0.120 | 16 | 28488603 | frameshift variant | AG/- | delins | 1 | |||
| rs1057517287 | 1.000 | 0.120 | 16 | 28486346 | splice donor variant | C/A | snv | 1 | |||
| rs1057517350 | 1.000 | 0.120 | 16 | 28482673 | splice acceptor variant | C/T | snv | 1 | |||
| rs1418997146 | 1.000 | 0.120 | 16 | 28482200 | splice acceptor variant | T/G | snv | 1 | |||
| rs142456044 | 1.000 | 0.120 | 16 | 28477818 | stop gained | G/A;C | snv | 1.2E-05 | 2.8E-05 | 1 | |
| rs1478660606 | 1.000 | 0.120 | 16 | 28487743 | splice acceptor variant | T/G | snv | 7.0E-06 | 1 | ||
| rs1555467473 | 1.000 | 0.120 | 16 | 28477866 | frameshift variant | -/A | delins | 1 | |||
| rs1555468374 | 1.000 | 0.120 | 16 | 28484005 | splice donor variant | C/- | delins | 1 | |||
| rs1555469089 | 1.000 | 0.120 | 16 | 28488663 | splice acceptor variant | C/T | snv | 1 | |||
| rs1555469159 | 1.000 | 0.120 | 16 | 28489316 | frameshift variant | -/G | delins | 1 | |||
| rs1555469452 | 1.000 | 0.120 | 16 | 28491481 | splice donor variant | C/- | delins | 1 | |||
| rs1555469477 | 1.000 | 0.120 | 16 | 28491561 | splice acceptor variant | C/T | snv | 1 | |||
| rs386833696 | 1.000 | 0.120 | 16 | 28482113 | frameshift variant | G/- | delins | 1 | |||
| rs386833697 | 1.000 | 0.120 | 16 | 28482107 | stop gained | G/A | snv | 8.1E-06 | 2.1E-05 | 1 | |
| rs386833699 | 1.000 | 0.120 | 16 | 28482105 | missense variant | C/G | snv | 1 | |||
| rs386833700 | 1.000 | 0.120 | 16 | 28491502 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
| rs386833701 | 1.000 | 0.120 | 16 | 28477739 | stop gained | C/A;G | snv | 4.0E-06 | 1 | ||
| rs386833702 | 1.000 | 0.120 | 16 | 28477636 | splice acceptor variant | C/A | snv | 8.0E-06 | 7.0E-06 | 1 | |
| rs386833703 | 1.000 | 0.120 | 16 | 28477586 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 1 | |
| rs386833704 | 1.000 | 0.120 | 16 | 28491477 | splice region variant | C/T | snv | 1.6E-05 | 1.4E-05 | 1 | |
| rs386833705 | 1.000 | 0.120 | 16 | 28489387 | splice acceptor variant | C/T | snv | 4.2E-06 | 1 | ||
| rs386833706 | 1.000 | 0.120 | 16 | 28477565 | stop gained | G/A;T | snv | 8.0E-06 | 1 |