Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs104894369 | 0.807 | 0.080 | 12 | 110914287 | missense variant | C/A;T | snv | 3 | |||
| rs1566147422 | 12 | 110911146 | frameshift variant | AG/- | del | 1 | |||||
| rs751392310 | 12 | 110919103 | inframe deletion | CCT/- | delins | 7.0E-06 | 1 |