Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1554083930 | 0.925 | 0.120 | 5 | 112837657 | stop gained | C/A | snv | 3 | |||
rs121913224 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 13 | |||
rs587783031 | 0.851 | 0.120 | 5 | 112840255 | frameshift variant | A/-;AA | delins | 7 | |||
rs587779352 | 0.882 | 0.120 | 5 | 112838774 | frameshift variant | ACAAA/- | delins | 5 | |||
rs1057518901 | 1.000 | 0.120 | 5 | 112840494 | frameshift variant | C/- | delins | 2 |