Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557045296 | 1.000 | X | 153693971 | missense variant | C/T | snv | 4 | ||||
rs1057519334 | 0.925 | 0.040 | 9 | 35802550 | frameshift variant | C/- | del | 7 | |||
rs1561964103 | 0.882 | 0.080 | 6 | 50836108 | frameshift variant | G/- | delins | 7 | |||
rs1558373252 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 19 | |||
rs1557570794 | 0.742 | 0.120 | 1 | 26697152 | frameshift variant | -/GCCGCCTCCCTCCTCCAGCGCC | delins | 15 | |||
rs1135401744 | 0.776 | 0.120 | 2 | 142918608 | splice acceptor variant | G/T | snv | 1.4E-04 | 14 | ||
rs1553525325 | 0.807 | 0.120 | 2 | 166002716 | missense variant | A/T | snv | 9 | |||
rs793888541 | 0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv | 7 | |||
rs886039909 | 0.882 | 0.120 | 1 | 21864095 | splice region variant | C/T | snv | 6 | |||
rs1555380716 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 5 | |||
rs121918494 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 24 | |||
rs1057518914 | 0.790 | 0.160 | X | 20193547 | missense variant | G/C | snv | 14 | |||
rs121908425 | 0.763 | 0.160 | 4 | 5748226 | stop gained | C/A;T | snv | 3.2E-05; 1.2E-05 | 14 | ||
rs1554199368 | 0.827 | 0.160 | 5 | 177256956 | missense variant | C/T | snv | 12 | |||
rs753317536 | 0.790 | 0.160 | 4 | 5719239 | intron variant | G/A;C | snv | 8.0E-06; 4.0E-06 | 12 | ||
rs112795301 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 11 | |||
rs397507539 | 0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 | 8 | ||
rs397507540 | 0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv | 8 | |||
rs1554196416 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 15 | |||
rs1554110735 | 0.776 | 0.200 | 6 | 10398693 | frameshift variant | TT/- | delins | 13 | |||
rs1555350397 | 0.827 | 0.200 | 14 | 56804268 | frameshift variant | ACA/CC | delins | 9 | |||
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs1569301036 | 0.827 | 0.240 | X | 71397354 | missense variant | C/T | snv | 17 | |||
rs912001256 | 0.851 | 0.240 | 17 | 63947062 | stop gained | G/A | snv | 17 |