| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs113994149 | 0.925 | 0.080 | 3 | 12516627 | missense variant | A/G | snv | 1.4E-04 | 7.0E-06 | 2 | |
| rs1477347690 | 1.000 | 0.040 | 3 | 12519135 | missense variant | A/G | snv | 1 | |||
| rs730880294 | 1.000 | 0.040 | 3 | 12503644 | stop gained | C/T | snv | 1 | |||
| rs755246924 | 1.000 | 0.040 | 3 | 12503306 | frameshift variant | AG/- | del | 2.4E-05 | 2.1E-05 | 1 | |
| rs797046052 | 1.000 | 0.040 | 3 | 12489936 | inframe deletion | CAA/- | delins | 1 | |||
| rs797046051 | 1.000 | 0.040 | 3 | 12531658 | missense variant | A/G;T | snv | 1 | |||
| rs886037738 | 1.000 | 0.040 | 3 | 12516659 | splice donor variant | GTAAG/- | delins | 1 | |||
| rs886037739 | 1.000 | 0.040 | 3 | 12516635 | missense variant | G/A | snv | 1 |