Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553485330 | 2 | 178531129 | frameshift variant | C/- | delins | 1 | |||||
rs1553650442 | 0.925 | 0.160 | 2 | 178593732 | frameshift variant | C/-;CCC | delins | 3 |