Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs111534978 | 1.000 | 0.200 | X | 17727793 | stop gained | C/A;T | snv | 4.4E-05 | 1 | ||
rs864309679 | 1.000 | 0.200 | X | 17726875 | frameshift variant | G/- | delins | 1 |