Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80338747 | 0.925 | 0.320 | 2 | 169205630 | missense variant | A/G | snv | 1 | |||
rs121434621 | 0.882 | 0.120 | X | 154154602 | missense variant | T/C | snv | 1 | |||
rs1057518955 | 1.000 | 0.120 | 1 | 94019602 | frameshift variant | -/C | delins | 4.1E-06 | 2 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 2 | |
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 2 | |
rs104894914 | 0.851 | 0.120 | X | 154191716 | missense variant | T/C | snv | 2 | |||
rs61755771 | 0.827 | 0.160 | 6 | 42722199 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 2 | |
rs1057518767 | 0.851 | 0.120 | 1 | 94098874 | missense variant | A/T | snv | 4 | |||
rs1555302200 | 0.925 | 0.120 | 14 | 21326029 | frameshift variant | -/TT | delins | 4 | |||
rs398123339 | 0.851 | 0.120 | 1 | 94113068 | splice acceptor variant | T/C | snv | 4.0E-06 | 5 | ||
rs777476179 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 5 | ||
rs775081992 | 0.851 | 0.240 | 7 | 33152811 | stop gained | C/T | snv | 2.0E-05 | 5 | ||
rs1057519444 | 0.925 | 0.120 | 22 | 32518208 | missense variant | GG/AA | mnv | 5 | |||
rs1243762658 | 0.851 | 0.160 | 4 | 182754413 | missense variant | C/A;G | snv | 4.2E-06 | 7.0E-06 | 5 | |
rs755000701 | 0.851 | 0.160 | 4 | 182799938 | missense variant | C/T | snv | 9.2E-06 | 1.4E-05 | 5 | |
rs1057519463 | 0.882 | 0.240 | 15 | 72349160 | frameshift variant | GAACTCAT/- | delins | 6 | |||
rs751375244 | 0.827 | 0.280 | 1 | 36139776 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 6 | |
rs1567815105 | 0.807 | 0.240 | 16 | 57660794 | frameshift variant | -/T | delins | 7 | |||
rs2723341 | 0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 | 8 | |
rs386834055 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 9 | |||
rs1567941252 | 0.807 | 0.240 | 17 | 38739601 | missense variant | G/A | snv | 10 | |||
rs199473457 | 0.827 | 0.200 | 11 | 2572020 | missense variant | C/A;T | snv | 11 | |||
rs1131692229 | 0.851 | 0.120 | 2 | 8730956 | frameshift variant | GT/- | delins | 11 | |||
rs781939614 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 11 | ||
rs781984979 | 0.851 | 0.240 | 1 | 145912346 | stop gained | G/A | snv | 4.0E-06 | 11 |