| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
| rs104893746 | 0.851 | 0.120 | 3 | 69956460 | stop gained | C/T | snv | 6 | |||
| rs1553704814 | 0.882 | 0.280 | 3 | 69956461 | inframe deletion | AGA/- | delins | 3 | |||
| rs876657699 | 0.925 | 0.040 | 3 | 69959370 | stop gained | C/G;T | snv | 2 | |||
| rs1553572967 | 0.925 | 0.040 | 2 | 222221300 | frameshift variant | -/C | delins | 2 | |||
| rs1057518765 | 1.000 | 0.040 | 3 | 69949082 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
| rs763119975 | 1.000 | 0.040 | 3 | 69956488 | missense variant | G/A;T | snv | 8.0E-06 | 1 | ||
| rs876657717 | 1.000 | 0.040 | 2 | 222232202 | missense variant | C/T | snv | 4.0E-06 | 1 |