Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5756795 | 1.000 | 0.120 | 22 | 37726115 | missense variant | T/C | snv | 0.39 | 0.35 | 1 | |
rs1244688796 | 0.925 | 0.200 | 21 | 34449584 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
rs779124360 | 0.925 | 0.200 | 21 | 34449585 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
rs778568636 | 1.000 | 0.120 | 18 | 46505856 | missense variant | C/A | snv | 6.4E-06 | 1 | ||
rs1057519601 | 0.925 | 0.120 | 17 | 18171764 | frameshift variant | G/CCAGGCCCGTGCAGCTC | delins | 2 | |||
rs1057519603 | 0.925 | 0.120 | 17 | 18126856 | missense variant | T/C | snv | 2 | |||
rs1057519604 | 0.925 | 0.120 | 17 | 18148937 | frameshift variant | G/- | delins | 2 | |||
rs1057519606 | 0.925 | 0.120 | 17 | 18159349 | splice donor variant | T/C | snv | 2 | |||
rs1057519607 | 0.925 | 0.120 | 17 | 18178843 | frameshift variant | -/C | delins | 2 | |||
rs878854415 | 0.925 | 0.120 | 17 | 18144495 | splice acceptor variant | A/G | snv | 2 | |||
rs370564476 | 1.000 | 0.120 | 17 | 19024372 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 | 1 | |
rs483352866 | 0.882 | 0.240 | 16 | 2496681 | missense variant | C/G;T | snv | 8.0E-06 | 3 | ||
rs144446375 | 1.000 | 0.120 | 15 | 80881079 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 2 | |
rs996035812 | 1.000 | 0.120 | 15 | 80925682 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs754786373 | 1.000 | 0.120 | 15 | 51471365 | missense variant | C/T | snv | 3.6E-05 | 2.8E-05 | 1 | |
rs201294938 | 1.000 | 0.120 | 14 | 30884617 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs72474224 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 18 | ||
rs111033293 | 0.763 | 0.280 | 13 | 20189581 | start lost | T/A;C | snv | 3.6E-05 | 4.2E-05 | 10 | |
rs28931593 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 9 | ||
rs35887622 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 8 | ||
rs2274084 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 6 | |
rs2274083 | 0.925 | 0.200 | 13 | 20189241 | missense variant | T/C | snv | 1.5E-02 | 5.1E-03 | 3 | |
rs1064797088 | 0.925 | 0.120 | 13 | 20189446 | missense variant | C/T | snv | 2 | |||
rs776848994 | 1.000 | 0.120 | 13 | 20223480 | start lost | T/C | snv | 1.6E-05 | 4.2E-05 | 2 |