Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs66527965 | 0.763 | 0.240 | 17 | 50193038 | missense variant | C/A;T | snv | 31 | |||
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 30 | |||
rs1064795559 | 0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv | 29 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs34757931 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 26 | |
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs267608327 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 25 | |||
rs1057519925 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 25 | |||
rs1554699491 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 23 | |||
rs780631499 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 23 | |
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs1135401778 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 20 | |||
rs1566785444 | 0.827 | 0.200 | 14 | 77025671 | frameshift variant | C/- | delins | 20 | |||
rs12720458 | 0.716 | 0.240 | 11 | 2585264 | missense variant | A/G | snv | 4.0E-05 | 1.4E-05 | 20 | |
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs1425998598 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 19 | ||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs139632595 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 19 | |
rs1558373252 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 19 | |||
rs1057518879 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 19 | |||
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 | |||
rs1555955296 | 0.742 | 0.320 | X | 18628716 | stop gained | C/T | snv | 17 | |||
rs1561273261 | 0.790 | 0.160 | 5 | 62361307 | missense variant | G/A | snv | 17 |