Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587779198 | 0.925 | 0.160 | 2 | 47416294 | splice acceptor variant | A/G | snv | 4 | |||
rs587783056 | 0.925 | 0.160 | 2 | 47799685 | frameshift variant | TT/- | delins | 1.4E-05 | 4 | ||
rs63749811 | 0.925 | 0.160 | 2 | 47476474 | frameshift variant | G/- | del | 4 | |||
rs63750232 | 0.925 | 0.160 | 2 | 47476435 | missense variant | G/A;C;T | snv | 4 | |||
rs63750393 | 0.925 | 0.160 | 2 | 47471007 | frameshift variant | GA/-;GAGA | delins | 4 | |||
rs63750488 | 0.925 | 0.160 | 2 | 47412483 | stop gained | C/G;T | snv | 4 | |||
rs63750648 | 0.882 | 0.160 | 3 | 36993602 | missense variant | A/T | snv | 4 | |||
rs63750704 | 0.925 | 0.160 | 2 | 47410115 | frameshift variant | CA/- | del | 4 | |||
rs63750706 | 0.882 | 0.160 | 3 | 36993609 | missense variant | C/A;T | snv | 4 | |||
rs63750828 | 0.925 | 0.160 | 2 | 47416351 | missense variant | G/A | snv | 4 | |||
rs63750970 | 0.925 | 0.160 | 2 | 47408478 | stop gained | C/T | snv | 4 | |||
rs63751155 | 0.925 | 0.160 | 2 | 47478289 | stop gained | C/A;G;T | snv | 4 | |||
rs63751444 | 0.925 | 0.160 | 2 | 47410287 | missense variant | T/C;G | snv | 4 | |||
rs63751618 | 0.925 | 0.160 | 2 | 47480866 | frameshift variant | AG/- | delins | 4 | |||
rs72481822 | 0.925 | 0.160 | 3 | 36993550 | start lost | G/A;T | snv | 4 | |||
rs1085308057 | 0.925 | 0.160 | 2 | 47475244 | missense variant | A/G | snv | 3 | |||
rs146421227 | 0.882 | 0.160 | 2 | 47482912 | missense variant | T/A | snv | 7.0E-06 | 3 | ||
rs267607727 | 0.925 | 0.160 | 3 | 37001049 | splice donor variant | G/A;T | snv | 3 | |||
rs267607994 | 0.925 | 0.160 | 2 | 47476448 | missense variant | C/T | snv | 3 | |||
rs28929484 | 0.925 | 0.160 | 2 | 47475180 | missense variant | C/T | snv | 3 | |||
rs587779148 | 0.925 | 0.160 | 2 | 47480760 | frameshift variant | AG/- | delins | 3 | |||
rs63750070 | 0.882 | 0.160 | 2 | 47410245 | missense variant | T/C;G | snv | 3 | |||
rs63750084 | 1.000 | 0.160 | 2 | 47482786 | frameshift variant | A/-;AA | delins | 3 | |||
rs63750582 | 0.925 | 0.160 | 2 | 47410217 | missense variant | G/A;T | snv | 3 | |||
rs63750586 | 0.925 | 0.160 | 2 | 47429867 | frameshift variant | -/A | delins | 3 |