Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs797044885 | 0.925 | 1 | 244055156 | missense variant | A/G | snv | 4 | ||||
rs1553270522 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 3 |