Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |
| rs1060503433 | 17 | 44901113 | stop gained | C/T | snv | 1 |