Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
rs774277300 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 17 | ||
rs143003434 | 1.000 | 0.080 | 2 | 32098840 | missense variant | G/A | snv | 3.2E-05 | 3.5E-05 | 7 | |
rs312262720 | 0.882 | 0.120 | 15 | 44657230 | frameshift variant | AT/- | del | 4.9E-05 | 5 |