Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs112795301 | 0.776 | 0.160 | 3 | 70972634 | stop gained | G/A | snv | 13 | |||
rs1553630279 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 7 | |||
rs369691608 | 1.000 | 0.160 | 2 | 218661255 | missense variant | C/T | snv | 8.0E-06 | 5 | ||
rs397514627 | 0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv | 5 | |||
rs869312865 | 0.827 | 0.160 | 9 | 137156676 | missense variant | G/A;C | snv | 5 | |||
rs1556024875 | 0.882 | 0.160 | X | 123634002 | missense variant | G/A | snv | 4 | |||
rs730882202 | 0.925 | 0.160 | 17 | 50571953 | inframe deletion | TTC/- | delins | 4 | |||
rs796053356 | 0.882 | 0.160 | 9 | 127663344 | missense variant | G/A | snv | 4 | |||
rs869025316 | 0.925 | 0.160 | 2 | 209918616 | missense variant | C/T | snv | 3.8E-05 | 2.8E-05 | 4 | |
rs869025317 | 0.925 | 0.160 | 2 | 209959707 | missense variant | G/C | snv | 4 | |||
rs869025318 | 0.925 | 0.160 | 2 | 209820379 | frameshift variant | A/- | delins | 4 | |||
rs869025319 | 0.925 | 0.160 | 2 | 209967586 | stop gained | T/A | snv | 4 | |||
rs201968272 | 0.925 | 0.160 | 12 | 31089147 | missense variant | G/A | snv | 3 | |||
rs886041300 | 1.000 | 0.160 | 1 | 210920032 | missense variant | C/T | snv | 3 | |||
rs1554041295 | 0.925 | 0.160 | 5 | 61541917 | stop gained | C/T | snv | 2 | |||
rs1554150607 | 0.925 | 0.160 | 5 | 88823786 | start lost | C/G | snv | 2 | |||
rs200115000 | 1.000 | 0.160 | 7 | 44220165 | missense variant | C/A;G;T | snv | 2.6E-04; 5.8E-05 | 2 | ||
rs45514095 | 0.925 | 0.160 | 16 | 2085323 | splice donor variant | G/A | snv | 2 | |||
rs794729668 | 0.925 | 0.160 | 19 | 49818457 | missense variant | A/G | snv | 2 | |||
rs797045036 | 0.925 | 0.160 | 3 | 3151023 | missense variant | A/G | snv | 2 | |||
rs202153551 | 1.000 | 0.160 | X | 18650466 | stop gained | C/T | snv | 2.0E-04 | 6.6E-05 | 1 | |
rs63485860 | 1.000 | 0.160 | X | 154031211 | missense variant | C/G;T | snv | 2.2E-05 | 1 | ||
rs74315442 | 0.851 | 0.200 | 21 | 43774297 | stop gained | G/A | snv | 4.0E-05 | 2.1E-05 | 10 | |
rs797045140 | 0.827 | 0.200 | X | 53238308 | splice region variant | TG/- | delins | 6 | |||
rs1057521721 | 0.851 | 0.200 | X | 123428020 | missense variant | G/A | snv | 5 |