Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs774056663 | 0.925 | 0.200 | 10 | 53823256 | frameshift variant | -/ATAGTATT | delins | 2.8E-05 | 2 | ||
rs1057519607 | 0.925 | 0.120 | 17 | 18178843 | frameshift variant | -/C | delins | 2 | |||
rs1283780488 | 0.925 | 0.200 | 11 | 78469304 | stop gained | -/T | delins | 2 | |||
rs35887622 | 0.790 | 0.200 | 13 | 20189481 | missense variant | A/C;G | snv | 8.7E-03 | 8 | ||
rs565224393 | 0.882 | 0.200 | 11 | 78469304 | stop gained | A/C;G;T | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs878854415 | 0.925 | 0.120 | 17 | 18144495 | splice acceptor variant | A/G | snv | 2 | |||
rs117685390 | 1.000 | 0.120 | 13 | 20193170 | upstream gene variant | A/G | snv | 0.16 | 1 | ||
rs1321703512 | 1.000 | 0.120 | 5 | 102477684 | missense variant | A/G | snv | 1.2E-05 | 1 | ||
rs201294938 | 1.000 | 0.120 | 14 | 30884617 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs56002719 | 1.000 | 0.120 | 4 | 6302122 | missense variant | A/T | snv | 3.8E-03 | 3.5E-03 | 1 | |
rs778568636 | 1.000 | 0.120 | 18 | 46505856 | missense variant | C/A | snv | 6.4E-06 | 1 | ||
rs72474224 | 0.708 | 0.440 | 13 | 20189473 | missense variant | C/A;T | snv | 7.7E-03 | 18 | ||
rs759504704 | 0.882 | 0.200 | 11 | 78436786 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs606231410 | 0.925 | 0.120 | 6 | 33189443 | missense variant | C/A;T | snv | 4.1E-06 | 2 | ||
rs757774496 | 1.000 | 0.120 | 12 | 80279038 | stop gained | C/A;T | snv | 3.4E-05 | 4.2E-05 | 1 | |
rs765136820 | 1.000 | 0.120 | 3 | 122001823 | missense variant | C/G | snv | 1.1E-04 | 2.8E-05 | 1 | |
rs483352866 | 0.882 | 0.240 | 16 | 2496681 | missense variant | C/G;T | snv | 8.0E-06 | 3 | ||
rs879255246 | 0.925 | 0.120 | 2 | 26484568 | missense variant | C/G;T | snv | 4.0E-06 | 2 | ||
rs397508115 | 0.925 | 0.200 | 11 | 2570683 | frameshift variant | C/GG | delins | 2 | |||
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs28931593 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 9 | ||
rs2274084 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 6 | |
rs121908354 | 0.882 | 0.240 | 10 | 71570884 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 4 | |
rs121908073 | 0.925 | 0.120 | 9 | 72694578 | stop gained | C/T | snv | 5.6E-05 | 3 | ||
rs1244688796 | 0.925 | 0.200 | 21 | 34449584 | stop gained | C/T | snv | 4.0E-06 | 3 |