Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727504597 | 1.000 | 0.160 | X | 120441803 | frameshift variant | A/- | del | 2 | |||
rs727504557 | X | 120441824 | frameshift variant | T/- | delins | 1 |