Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519389 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 46 | |||
rs1345176461 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 40 | ||
rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 36 | |
rs1043679457 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 33 | |||
rs267608327 | 0.763 | 0.200 | X | 154030631 | splice acceptor variant | CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- | delins | 25 | |||
rs1555745467 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 23 | |||
rs28936415 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 22 | |
rs113994095 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 21 | |
rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 20 | |||
rs267606670 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 17 | |||
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 17 | |||
rs387906799 | 0.742 | 0.200 | 2 | 240788118 | missense variant | G/A | snv | 17 | |||
rs758361736 | 0.776 | 0.240 | 15 | 89649836 | missense variant | T/G | snv | 1.3E-05 | 1.4E-05 | 16 | |
rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
rs771379232 | 0.790 | 0.120 | 15 | 79845338 | stop gained | G/A | snv | 2.0E-05 | 3.5E-05 | 15 | |
rs753635972 | 0.790 | 0.120 | 15 | 79845388 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 15 | |
rs181109321 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 15 | ||
rs1057519429 | 0.807 | 0.240 | 19 | 13235666 | missense variant | C/G;T | snv | 14 | |||
rs1554904159 | 0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv | 11 | |||
rs869312702 | 0.827 | 0.160 | 9 | 128203609 | missense variant | G/A | snv | 10 | |||
rs782316919 | 0.827 | 0.160 | 9 | 133351970 | frameshift variant | AG/- | delins | 8.4E-05 | 9 | ||
rs374997012 | 0.851 | 0.280 | 10 | 100989114 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 9 | |
rs886037832 | 0.851 | 0.280 | 10 | 100988541 | frameshift variant | T/- | delins | 9 | |||
rs80358257 | 0.827 | 0.280 | 18 | 23538564 | missense variant | G/C | snv | 1.2E-04 | 2.1E-04 | 8 | |
rs267607116 | 0.851 | 0.160 | 8 | 93808861 | missense variant | G/A;C | snv | 8 |