Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs28934906 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 46 | |||
rs267606826 | 0.708 | 0.520 | 14 | 28767903 | stop gained | C/A;G;T | snv | 38 | |||
rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 30 | |||
rs1553920379 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 27 | |||
rs1564919048 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 23 | |||
rs2254298 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 23 | ||
rs886041116 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 13 | |||
rs1566785990 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 12 | |||
rs863225094 | 0.827 | 0.160 | 19 | 52213076 | missense variant | G/A | snv | 10 | |||
rs869312702 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 10 | |||
rs1131691299 | 0.882 | 0.160 | X | 41341587 | frameshift variant | C/- | del | 9 | |||
rs587783405 | 0.851 | 0.160 | X | 18588021 | stop gained | C/T | snv | 9 | |||
rs1057518864 | 0.925 | 18 | 55350409 | splice acceptor variant | C/T | snv | 7 | ||||
rs1380822792 | 0.882 | 0.080 | 4 | 139336933 | frameshift variant | CTTGA/- | delins | 7 | |||
rs1556913258 | 0.851 | 0.280 | X | 53536580 | missense variant | G/C | snv | 7 | |||
rs886041876 | 0.851 | 0.280 | X | 53551078 | missense variant | G/A | snv | 7 | |||
rs1556912828 | 0.925 | 0.280 | X | 53536209 | missense variant | G/C | snv | 6 | |||
rs1057518786 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 5 | ||||
rs267608463 | 0.925 | 0.120 | X | 154032206 | splice donor variant | C/A;T | snv | 5 | |||
rs782393002 | 0.882 | 0.280 | X | 53549413 | missense variant | A/C;G | snv | 1.1E-05 | 6 | ||
rs61752717 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 72 | ||
rs149617956 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 32 |