| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs878854459 | 5 | 13766091 | missense variant | A/G;T | snv | 4.0E-06 | 1 | ||||
| rs1569162748 | 0.925 | 0.120 | X | 13767142 | frameshift variant | AAATT/- | del | 7 | |||
| rs1569163423 | 1.000 | 0.160 | X | 13767272 | frameshift variant | -/T | delins | 2 | |||
| rs1569164733 | 1.000 | 0.160 | X | 13768093 | stop gained | G/T | snv | 2 | |||
| rs1569164829 | 1.000 | 0.160 | X | 13768111 | stop gained | G/T | snv | 2 | |||
| rs914675446 | 5 | 13768959 | splice donor variant | C/G | snv | 4.0E-06 | 7.0E-06 | 1 | |||
| rs1305797678 | 5 | 13769584 | frameshift variant | C/- | del | 8.0E-06 | 1 | ||||
| rs769691641 | 5 | 13769601 | frameshift variant | A/- | delins | 8.0E-06 | 4.9E-05 | 1 | |||
| rs863224504 | 5 | 13770852 | stop gained | G/A | snv | 1.2E-05 | 1 | ||||
| rs727504802 | 5 | 13770905 | frameshift variant | C/- | delins | 1 | |||||
| rs1561215953 | 5 | 13770982 | splice acceptor variant | T/A | snv | 1 | |||||
| rs1060501460 | 1.000 | 0.160 | 5 | 13776447 | frameshift variant | A/- | delins | 1.2E-05 | 2 | ||
| rs1175877764 | 5 | 13776577 | stop gained | G/A | snv | 1 | |||||
| rs769054713 | 5 | 13777309 | stop gained | G/A | snv | 8.0E-06 | 7.0E-06 | 1 | |||
| rs1561241156 | 5 | 13780916 | frameshift variant | A/- | del | 1 | |||||
| rs1060501454 | 5 | 13780960 | splice acceptor variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 1 | ||||
| rs727502973 | 1.000 | 0.160 | 5 | 13788721 | missense variant | G/C | snv | 1.6E-05 | 2.1E-05 | 1 | |
| rs1554049087 | 5 | 13788756 | frameshift variant | GT/- | delins | 1 | |||||
| rs753130398 | 5 | 13788865 | missense variant | C/T | snv | 1.2E-05 | 1 | ||||
| rs1060501455 | 5 | 13788898 | stop gained | C/T | snv | 1 | |||||
| rs745885469 | 5 | 13788914 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||||
| rs755136231 | 1.000 | 0.160 | 5 | 13791995 | frameshift variant | TTTGGTTC/- | del | 2.0E-05 | 1.4E-05 | 2 | |
| rs1193586811 | 5 | 13792038 | stop gained | G/A | snv | 1.2E-05 | 3.5E-05 | 1 | |||
| rs727502974 | 5 | 13792055 | missense variant | T/C | snv | 2.4E-05 | 7.7E-05 | 1 | |||
| rs1554050517 | 5 | 13792120 | frameshift variant | -/G | ins | 1 |