Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs869025317 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 4 | |||
rs150681845 | 1.000 | 0.080 | 4 | 127687772 | missense variant | G/A | snv | 2.6E-03 | 1.8E-03 | 2 | |
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 | |||
rs863223330 | 0.807 | 0.280 | 14 | 60648629 | splice donor variant | C/G | snv | 8 | |||
rs1057518781 | 0.925 | 0.120 | 19 | 7527961 | splice donor variant | G/A;C | snv | 7 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs796051881 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 9 | |||
rs587779388 | 1.000 | 1 | 113898755 | frameshift variant | GT/- | delins | 1.4E-04 | 1.5E-04 | 5 | ||
rs1057518817 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 4 | |||
rs869025318 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 4 | |||
rs1426488816 | 0.827 | 0.160 | 9 | 26913948 | splice acceptor variant | C/T | snv | 8.0E-06 | 9 | ||
rs748379243 | 0.882 | 0.200 | 5 | 60928961 | splice acceptor variant | T/A;C | snv | 4.0E-06 | 7.0E-06 | 6 | |
rs897535441 | 0.925 | 0.160 | 5 | 60887521 | splice acceptor variant | C/G;T | snv | 5 | |||
rs1569518070 | 0.752 | 0.480 | 21 | 45989088 | inframe deletion | AAC/- | del | 33 |