Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs113624356 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 17 | |
rs281865192 | 0.742 | 0.280 | 12 | 88101183 | intron variant | T/C | snv | 2.8E-04 | 11 | ||
rs549625604 | 0.752 | 0.280 | 12 | 76347713 | frameshift variant | -/A | delins | 6.0E-04 | 13 | ||
rs886039799 | 0.763 | 0.320 | 7 | 33273896 | frameshift variant | C/- | del | 17 | |||
rs61751374 | 0.776 | 0.160 | 1 | 94043413 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 8 | |
rs121908175 | 0.790 | 0.160 | 16 | 56519791 | stop gained | G/C | snv | 5.2E-05 | 2.8E-05 | 8 | |
rs111033334 | 0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 | 7 | ||
rs386834152 | 0.790 | 0.280 | 12 | 88114488 | stop gained | G/A | snv | 5.1E-05 | 4.9E-05 | 7 | |
rs80338902 | 0.790 | 0.200 | 1 | 216247118 | missense variant | C/A | snv | 9.7E-04 | 1.3E-03 | 6 | |
rs111033260 | 0.790 | 0.200 | 10 | 54317414 | stop gained | G/A;T | snv | 2.2E-04; 4.0E-06 | 4 | ||
rs1800728 | 0.807 | 0.080 | 1 | 94011395 | intron variant | A/G | snv | 2.3E-04 | 3.0E-04 | 8 | |
rs2723341 | 0.807 | 0.160 | 15 | 71811481 | splice acceptor variant | A/C | snv | 5.3E-04 | 5.1E-04 | 8 | |
rs397515360 | 0.807 | 0.160 | 8 | 86643781 | frameshift variant | G/- | del | 1.8E-03 | 8 | ||
rs111033364 | 0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 | 7 | |
rs62645748 | 0.807 | 0.080 | 1 | 197434706 | missense variant | G/A | snv | 2.1E-04 | 2.2E-04 | 7 | |
rs281865377 | 0.807 | 0.080 | 1 | 94029447 | frameshift variant | G/-;GG | delins | 2.1E-05 | 6 | ||
rs62645944 | 0.807 | 0.080 | 1 | 94098794 | splice region variant | C/A | snv | 8.8E-05 | 6.3E-05 | 6 | |
rs29001566 | 0.807 | 0.080 | 3 | 129533711 | missense variant | C/A;G;T | snv | 5 | |||
rs28937873 | 0.807 | 0.160 | 15 | 71813573 | missense variant | G/A | snv | 4.0E-04 | 3.1E-04 | 4 | |
rs387906980 | 0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 | 4 | |
rs104893768 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 3 | |||
rs104893775 | 0.807 | 0.160 | 3 | 129530917 | missense variant | C/T | snv | 3 | |||
rs61755793 | 0.807 | 0.080 | 6 | 42721820 | missense variant | C/T | snv | 4.0E-06 | 3 |