| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1553200431 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 8 | |||
| rs1057524237 | 0.851 | 0.280 | 1 | 102915626 | splice region variant | C/T | snv | 7 | |||
| rs398122828 | 1.000 | 0.240 | 1 | 102915630 | splice donor variant | C/T | snv | 2 | |||
| rs1553234339 | 1.000 | 1 | 103012412 | splice donor variant | C/T | snv | 2 | ||||
| rs1553196515 | 1 | 102898938 | splice region variant | T/A | snv | 1 | |||||
| rs1553193910 | 0.925 | 0.280 | 1 | 102888730 | missense variant | C/A | snv | 1 | |||
| rs1557877041 | 1.000 | 0.080 | 1 | 102962705 | missense variant | C/T | snv | 1 | |||
| rs121912943 | 1.000 | 0.080 | 1 | 103004633 | missense variant | C/A | snv | 1 | |||
| rs1557932876 | 1.000 | 0.080 | 1 | 103004637 | inframe deletion | TGAGGACCT/- | delins | 1 | |||
| rs866783525 | 1.000 | 0.080 | 1 | 102889523 | stop gained | C/A;T | snv | 1 | |||
| rs1557847904 | 1.000 | 0.080 | 1 | 102939032 | splice donor variant | CA/- | delins | 1 | |||
| rs1057518666 | 1.000 | 0.080 | 1 | 102978703 | splice region variant | C/T | snv | 1 | |||
| rs397514455 | 1.000 | 1 | 102946884 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 | 1 | ||
| rs1557812993 | 1.000 | 1 | 102914387 | stop gained | C/A | snv | 1 | ||||
| rs387906611 | 1.000 | 1 | 102989562 | missense variant | C/G | snv | 1 | ||||
| rs730882190 | 1.000 | 1 | 103006072 | frameshift variant | -/C | delins | 1 | ||||
| rs121912944 | 1.000 | 1 | 102962750 | missense variant | C/A | snv | 1 |