Source: CLINVAR
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894927 | 0.882 | 0.080 | X | 46853731 | stop gained | C/T | snv | 3 | |||
rs137852284 | 0.925 | 0.080 | X | 46837115 | inframe deletion | TCC/- | delins | 2 | |||
rs1556318627 | 1.000 | 0.080 | X | 46853711 | missense variant | C/A | snv | 1 | |||
rs1556318633 | 0.925 | 0.080 | X | 46853725 | missense variant | C/T | snv | 2 | |||
rs28933687 | 0.882 | 0.080 | X | 46853726 | missense variant | G/A;T | snv | 1 | |||
rs797044561 | 1.000 | 0.080 | X | 46837102 | start lost | T/C | snv | 1 |