Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs875989805 | 0.925 | 0.120 | X | 17687870 | stop gained | C/T | snv | 4 | |||
rs730880297 | 0.925 | 0.120 | 2 | 160126416 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 2 | |
rs104894881 | 1.000 | 0.120 | X | 17375872 | stop gained | C/T | snv | 1 | |||
rs132630322 | 1.000 | 0.120 | X | 17724370 | stop gained | C/T | snv | 1 | |||
rs1341004065 | 1.000 | 0.120 | X | 17376034 | stop gained | G/A;T | snv | 1 | |||
rs1481421967 | 1.000 | 0.120 | X | 17731956 | missense variant | C/G;T | snv | 5.5E-06 | 1 | ||
rs150688899 | 1.000 | 0.120 | X | 17725820 | missense variant | C/T | snv | 2.5E-02 | 6.4E-02 | 1 | |
rs1556039901 | 1.000 | 0.120 | X | 17728262 | stop gained | A/T | snv | 1 | |||
rs1569310232 | 1.000 | 0.120 | X | 17692358 | stop gained | C/T | snv | 1 | |||
rs1569310288 | 1.000 | 0.120 | X | 17692430 | stop gained | C/T | snv | 1 | |||
rs1569319773 | 1.000 | 0.120 | X | 17726583 | stop gained | G/A | snv | 1 | |||
rs187739639 | 1.000 | 0.120 | X | 17725866 | missense variant | T/C | snv | 6.5E-04 | 1.0E-04 | 1 | |
rs3747295 | 1.000 | 0.120 | X | 17728124 | missense variant | T/C | snv | 0.17 | 0.29 | 1 | |
rs756852916 | 1.000 | 0.120 | X | 17635568 | start lost | T/A;C;G | snv | 9.0E-06; 1.8E-05 | 1 | ||
rs786205257 | 1.000 | 0.120 | X | 17721439 | splice acceptor variant | A/G | snv | 1 | |||
rs1556030707 | 1.000 | 0.120 | X | 17687893 | splice donor variant | -/G | delins | 1 | |||
rs1556038355 | 1.000 | 0.120 | X | 17725566 | frameshift variant | GACA/- | delins | 1 | |||
rs786205255 | 1.000 | 0.120 | X | 17726555 | frameshift variant | -/C | delins | 1 | |||
rs786205256 | 1.000 | 0.120 | X | 17727627 | frameshift variant | C/- | delins | 1 | |||
rs786205677 | 1.000 | 0.120 | X | 17692468 | splice donor variant | G/- | delins | 1 |