Source: CLINVAR
| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1566446604 | 0.882 | 0.080 | 14 | 21431511 | frameshift variant | GAGAGCTTGGCAGTCCA/- | delins | 6 | |||
| rs1135401763 | 1.000 | 14 | 21431297 | frameshift variant | G/- | del | 2 | ||||
| rs1555313219 | 1.000 | 14 | 21393500 | stop gained | C/A;T | snv | 2 |