Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs79184941 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 18 | ||
rs398124401 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 25 | |
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs180177135 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 27 | ||
rs121918130 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 18 | ||
rs16260 | 0.716 | 0.440 | 16 | 68737131 | upstream gene variant | C/A | snv | 0.24 | 1 | ||
rs1558939623 | 0.732 | 0.480 | 2 | 174824479 | missense variant | C/T | snv | 19 | |||
rs587784105 | 0.732 | 0.440 | 5 | 177235863 | stop gained | G/A | snv | 19 | |||
rs771409809 | 0.732 | 0.480 | 4 | 6301794 | stop gained | C/T | snv | 6.0E-05 | 7.0E-06 | 19 | |
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs1566823361 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 18 | |||
rs140291094 | 0.742 | 0.320 | 12 | 57244322 | missense variant | C/G | snv | 9.1E-05 | 3.8E-04 | 1 | |
rs864309488 | 0.776 | 0.440 | 6 | 24777296 | missense variant | A/G | snv | 14 | |||
rs104894110 | 0.776 | 0.280 | 9 | 97854108 | missense variant | C/T | snv | 1 | |||
rs1064796460 | 0.790 | 0.400 | 12 | 49185197 | missense variant | C/G;T | snv | 8 | |||
rs587777450 | 0.790 | 0.320 | 18 | 10671729 | missense variant | C/T | snv | 6 | |||
rs104893810 | 0.790 | 0.360 | 3 | 30691477 | missense variant | C/T | snv | 3 | |||
rs776720232 | 0.827 | 0.240 | 17 | 39673099 | missense variant | T/C;G | snv | 4.2E-06 | 10 | ||
rs1135401746 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 7 | |||
rs1558027212 | 0.827 | 0.320 | 1 | 165728096 | frameshift variant | GC/- | del | 7 | |||
rs1553155986 | 0.827 | 0.280 | 1 | 42929008 | missense variant | C/T | snv | 5 | |||
rs1553200431 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 8 | |||
rs1553544133 | 0.851 | 0.200 | 2 | 199308845 | frameshift variant | TC/- | delins | 6 | |||
rs28942094 | 0.851 | 0.400 | 1 | 209801398 | missense variant | G/A | snv | 4 | |||
rs369867819 | 0.851 | 0.320 | 11 | 76659963 | stop gained | G/A;T | snv | 4.0E-06 | 3 |