Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1555507479 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 12 | |||
rs1562171209 | 0.851 | 0.160 | 6 | 79003821 | missense variant | T/C | snv | 9 | |||
rs886041239 | 1.000 | 0.160 | 10 | 110593202 | missense variant | A/G | snv | 9 | |||
rs1555055028 | 0.882 | 0.160 | 11 | 124923996 | missense variant | G/A | snv | 5 | |||
rs1565091862 | 0.925 | 0.160 | 10 | 76944829 | missense variant | T/C | snv | 4 | |||
rs121917929 | 0.925 | 0.160 | 2 | 166046970 | missense variant | G/A;T | snv | 3 | |||
rs1569149539 | 0.925 | 0.160 | 22 | 42212712 | stop gained | G/C | snv | 3 | |||
rs1569151204 | 0.925 | 0.160 | 22 | 42213495 | frameshift variant | CA/- | delins | 2 | |||
rs760378316 | 1.000 | 0.160 | 7 | 99203201 | stop gained | G/A | snv | 3.2E-05 | 6.3E-05 | 1 | |
rs1554196416 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 15 | |||
rs1057516048 | 0.925 | 0.200 | 5 | 177283796 | missense variant | A/T | snv | 8 | |||
rs1554642022 | 0.851 | 0.200 | 8 | 143816981 | stop gained | G/A | snv | 8 | |||
rs786200963 | 0.827 | 0.200 | 19 | 13371683 | splice region variant | C/T | snv | 6 | |||
rs797045140 | 0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins | 6 | |||
rs1569356968 | 0.882 | 0.200 | X | 53405268 | stop gained | C/A | snv | 5 | |||
rs1239725461 | 0.851 | 0.200 | 15 | 76702873 | stop gained | G/A | snv | 7.0E-06 | 4 | ||
rs762864856 | 0.925 | 0.200 | 5 | 151856384 | splice acceptor variant | C/G;T | snv | 8.0E-06 | 3 | ||
rs104894700 | 0.925 | 0.200 | 19 | 50323609 | missense variant | G/C;T | snv | 1 | |||
rs797044872 | 0.882 | 0.200 | 19 | 50323685 | missense variant | C/T | snv | 1 | |||
rs1555454508 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 18 | |||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs1057519429 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 14 | |||
rs1555661648 | 0.882 | 0.240 | 18 | 26862297 | missense variant | C/G | snv | 6 | |||
rs1060505029 | 0.882 | 0.240 | 1 | 109066220 | missense variant | A/T | snv | 5 |