| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs528302390 | 0.776 | 0.120 | 7 | 47831214 | splice donor variant | AC/- | delins | 3.7E-04 | 5.0E-04 | 9 | |
| rs145457535 | 0.827 | 0.160 | 17 | 44902549 | missense variant | A/C | snv | 1.2E-03 | 1.3E-03 | 6 | |
| rs770861172 | 0.827 | 0.160 | 2 | 195857582 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 6 | |
| rs751527253 | 0.827 | 0.240 | 3 | 132689264 | splice acceptor variant | CT/- | del | 2.6E-04 | 6 | ||
| rs150508940 | 1.000 | 0.040 | 1 | 111347753 | missense variant | G/A | snv | 3.0E-04 | 1.8E-04 | 1 | |
| rs773920636 | 1.000 | 0.040 | 1 | 111347744 | stop gained | -/AGCTGTGA | delins | 4.0E-06; 4.0E-06 | 1.4E-05 | 1 |