| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs121918327 | 0.776 | 0.240 | 4 | 122742955 | stop gained | C/T | snv | 2.8E-05 | 1.4E-05 | 12 | |
| rs878853379 | 3 | 150972611 | stop gained | C/T | snv | 1 | |||||
| rs878853351 | 4 | 154744799 | stop gained | G/A | snv | 1 | |||||
| rs878853400 | 4 | 15984327 | frameshift variant | G/- | delins | 1 | |||||
| rs137853005 | 0.925 | 0.080 | 4 | 15994028 | stop gained | G/A;T | snv | 4.0E-06 | 3 | ||
| rs762078182 | 4 | 15994057 | frameshift variant | T/-;TT | delins | 1 | |||||
| rs372513650 | 4 | 15998489 | splice acceptor variant | C/G | snv | 3.0E-05 | 1.4E-05 | 1 | |||
| rs137853907 | 4 | 16000517 | stop gained | G/T | snv | 2.8E-05 | 8.4E-05 | 1 | |||
| rs543698823 | 0.882 | 0.080 | 4 | 16006637 | frameshift variant | -/A | delins | 2.2E-04 | 2.1E-04 | 4 | |
| rs746174328 | 1.000 | 0.080 | 4 | 16009072 | frameshift variant | AT/- | delins | 2 | |||
| rs137853006 | 0.776 | 0.080 | 4 | 16013299 | missense variant | G/A | snv | 11 | |||
| rs1196489060 | 4 | 16018318 | splice region variant | C/T | snv | 4.0E-06 | 1.4E-05 | 1 | |||
| rs373331232 | 4 | 16023380 | stop gained | G/A;C | snv | 1.7E-05 | 1 | ||||
| rs780697796 | 1.000 | 0.080 | 4 | 16033377 | stop gained | G/A;T | snv | 1.2E-05; 8.0E-06 | 2 | ||
| rs878853387 | 17 | 1662014 | frameshift variant | TGAGT/- | delins | 1 | |||||
| rs759025536 | 2 | 169185615 | missense variant | C/A;T | snv | 8.0E-06 | 1 | ||||
| rs111733491 | 2 | 169236027 | missense variant | C/A;G;T | snv | 8.0E-06; 3.6E-05 | 1 | ||||
| rs1553512879 | 2 | 181544799 | splice region variant | G/C | snv | 1 | |||||
| rs750151209 | 2 | 181548785 | frameshift variant | AT/- | del | 1.2E-05 | 1 | ||||
| rs121909398 | 0.827 | 0.080 | 2 | 181558617 | stop gained | G/A;C | snv | 3.5E-04; 4.0E-06 | 7 | ||
| rs569826109 | 1.000 | 0.080 | 2 | 181604002 | missense variant | G/A;T | snv | 5.2E-05; 5.2E-05 | 2 | ||
| rs201186440 | 2 | 181656814 | stop gained | C/A;T | snv | 1.3E-04 | 1 | ||||
| rs61752067 | 0.925 | 0.040 | X | 18647213 | missense variant | G/A | snv | 5.5E-06 | 3 | ||
| rs1553249226 | 1 | 197328605 | missense variant | G/A | snv | 1 | |||||
| rs878853366 | 1 | 197344433 | frameshift variant | -/A | delins | 1 |