Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057515572 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 8 | |||
rs1057517843 | 1.000 | 0.240 | 12 | 49185725 | missense variant | C/A;T | snv | 2 | |||
rs1057518772 | 20 | 63433860 | missense variant | A/C;G | snv | 1 | |||||
rs1057518777 | 15 | 25339239 | splice acceptor variant | -/TGAGATGTAGGTA | delins | 2 | |||||
rs1057518781 | 0.925 | 0.120 | 19 | 7527961 | splice donor variant | G/A;C | snv | 7 | |||
rs1057518782 | 0.925 | 0.120 | 19 | 7526579 | stop gained | C/G;T | snv | 7 | |||
rs1057518799 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 7 | |||
rs1057518800 | 12 | 13567228 | missense variant | C/T | snv | 2 | |||||
rs1057518850 | 1.000 | 0.040 | X | 147928320 | splice acceptor variant | A/G | snv | 2 | |||
rs1057518872 | 0.882 | 0.160 | 6 | 121447287 | missense variant | T/C | snv | 5 | |||
rs1057518913 | 0.851 | 0.320 | 9 | 137762822 | splice donor variant | T/C | snv | 7 | |||
rs1057518918 | 0.882 | 0.160 | 6 | 157184329 | frameshift variant | C/- | delins | 6 | |||
rs1057518926 | 0.925 | 0.120 | 3 | 70977675 | missense variant | G/C | snv | 5 | |||
rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
rs1057519381 | 0.851 | 0.240 | X | 71124276 | missense variant | G/A | snv | 6 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs1057519392 | 1.000 | 0.160 | 1 | 151412348 | missense variant | A/G | snv | 2 | |||
rs1057519393 | 1.000 | 0.080 | X | 53197768 | splice donor variant | -/A | delins | 2 | |||
rs1057519394 | 1.000 | 0.280 | X | 136002195 | frameshift variant | T/- | delins | 2 | |||
rs1057519395 | 1.000 | 0.080 | 22 | 50721861 | frameshift variant | TG/- | delins | 2 | |||
rs1057519398 | 1.000 | 0.080 | X | 53409218 | frameshift variant | -/G | ins | 2 | |||
rs1057519399 | 1.000 | 0.280 | 16 | 89281038 | frameshift variant | A/- | del | 2 | |||
rs1057519400 | 1.000 | 0.160 | 6 | 33440958 | frameshift variant | TT/- | delins | 2 | |||
rs1057519402 | 1.000 | 21 | 37478266 | frameshift variant | CTTGA/- | delins | 2 | ||||
rs1057519403 | 1.000 | 0.240 | 11 | 118499835 | missense variant | G/A | snv | 2 |