| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs879253744 | 1.000 | 10 | 27935009 | splice donor variant | C/T | snv | 4.0E-06 | 2 | |||
| rs746242380 | 1.000 | 0.080 | 17 | 44902646 | frameshift variant | AGAG/-;AG;AGAGAG | delins | 1.6E-05 | 2.8E-05 | 4 | |
| rs145457535 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 3 | |
| rs147718607 | 0.925 | 0.160 | 19 | 48303953 | missense variant | C/T | snv | 2.4E-04 | 2.2E-04 | 3 | |
| rs201133219 | 1.000 | 19 | 48297995 | splice region variant | C/T | snv | 8.0E-05 | 7.0E-05 | 2 | ||
| rs1060500990 | 19 | 48303645 | splice region variant | C/T | snv | 1.4E-05 | 1 | ||||
| rs1421531868 | 19 | 48312079 | frameshift variant | T/- | delins | 6.3E-06 | 1 | ||||
| rs753915759 | 19 | 48297656 | frameshift variant | -/G | delins | 1.4E-05 | 1 | ||||
| rs766394527 | 19 | 48297653 | frameshift variant | -/C | delins | 2.4E-05 | 1.4E-05 | 1 | |||
| rs397515392 | 1.000 | 0.120 | 3 | 180661860 | splice donor variant | C/G | snv | 1.6E-04 | 7.0E-05 | 2 | |
| rs587778820 | 1.000 | 0.120 | 3 | 180619334 | frameshift variant | T/- | delins | 2.6E-05 | 1.4E-05 | 2 | |
| rs587778822 | 1.000 | 0.120 | 3 | 180651496 | frameshift variant | T/- | delins | 1.4E-05 | 2 | ||
| rs773801386 | 1.000 | 0.120 | 3 | 180654861 | frameshift variant | GT/- | delins | 4.2E-05 | 2 | ||
| rs1210953680 | 3 | 180652161 | splice donor variant | A/T | snv | 1 | |||||
| rs1275367324 | 3 | 180651409 | frameshift variant | C/- | del | 5.9E-06 | 1 | ||||
| rs1285431486 | 3 | 180642111 | frameshift variant | C/- | del | 4.0E-06 | 1 | ||||
| rs1415346246 | 3 | 180659577 | splice acceptor variant | AACT/- | delins | 4.0E-06 | 1 | ||||
| rs1553803540 | 3 | 180641992 | splice donor variant | C/T | snv | 1 | |||||
| rs1553804100 | 3 | 180647254 | intron variant | T/C | snv | 1 | |||||
| rs1553804209 | 3 | 180648215 | frameshift variant | -/T | delins | 1 | |||||
| rs1553804220 | 3 | 180648285 | frameshift variant | C/- | del | 1 | |||||
| rs1553804640 | 3 | 180651533 | splice acceptor variant | C/- | delins | 1 | |||||
| rs1553805740 | 3 | 180659694 | frameshift variant | -/GT | delins | 1 | |||||
| rs1553805885 | 3 | 180660635 | frameshift variant | C/- | del | 1 | |||||
| rs1560079213 | 3 | 180616697 | splice acceptor variant | T/- | del | 1 |