Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
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 | |||
rs1064797088 | 0.925 | 0.120 | 13 | 20189446 | missense variant | C/T | snv | 2 | |||
rs111033260 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 7 | ||
rs111033293 | 0.763 | 0.280 | 13 | 20189581 | start lost | T/A;C | snv | 3.6E-05 | 4.2E-05 | 10 | |
rs117685390 | 1.000 | 0.120 | 13 | 20193170 | upstream gene variant | A/G | snv | 0.16 | 1 | ||
rs1185695012 | 0.925 | 0.200 | 9 | 114403898 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs121908073 | 0.925 | 0.120 | 9 | 72694578 | stop gained | C/T | snv | 5.6E-05 | 3 | ||
rs121908144 | 0.882 | 0.240 | 1 | 54999221 | missense variant | T/C | snv | 2.0E-05 | 3 | ||
rs121908354 | 0.882 | 0.240 | 10 | 71570884 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 4 | |
rs121912557 | 0.882 | 0.120 | 6 | 75857198 | missense variant | G/A | snv | 4 | |||
rs1244688796 | 0.925 | 0.200 | 21 | 34449584 | stop gained | C/T | snv | 4.0E-06 | 3 | ||
rs1283780488 | 0.925 | 0.200 | 11 | 78469304 | stop gained | -/T | delins | 2 | |||
rs1321703512 | 1.000 | 0.120 | 5 | 102477684 | missense variant | A/G | snv | 1.2E-05 | 1 | ||
rs144446375 | 1.000 | 0.120 | 15 | 80881079 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 2 | |
rs144964568 | 1.000 | 0.120 | 1 | 34785465 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 1 | |
rs1465957812 | 1.000 | 0.120 | 10 | 77084649 | missense variant | G/A | snv | 1 | |||
rs1566538321 | 1.000 | 0.120 | 13 | 20222994 | frameshift variant | G/- | delins | 1 | |||
rs199606180 | 0.882 | 0.200 | 11 | 77206120 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs200089613 | 0.925 | 0.280 | 5 | 140698056 | missense variant | G/A;T | snv | 8.0E-05; 3.7E-04 | 2 | ||
rs201294938 | 1.000 | 0.120 | 14 | 30884617 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 |