Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs727503109 | 0.752 | 0.320 | 12 | 25245277 | missense variant | T/C | snv | 16 | |||
rs1555741826 | 0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins | 16 | |||
rs1563686762 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 16 | |||
rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
rs730881014 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 15 | |||
rs397517154 | 0.763 | 0.280 | 2 | 39022773 | missense variant | C/A;G;T | snv | 4.0E-06 | 15 | ||
rs1555247672 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 14 | |||
rs1060503383 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 14 | |||
rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
rs267607079 | 0.776 | 0.240 | 2 | 39022772 | missense variant | C/A;G | snv | 13 | |||
rs886041125 | 0.807 | 0.440 | 16 | 89284635 | frameshift variant | GTTTT/- | delins | 7.0E-06 | 12 | ||
rs77543610 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 12 | |||
rs121913528 | 0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv | 11 | |||
rs137852813 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 11 | |||
rs140614802 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 10 | |
rs201217593 | 0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 | 8 | |
rs1554642022 | 0.851 | 0.200 | 8 | 143816981 | stop gained | G/A | snv | 8 | |||
rs863224880 | 0.925 | 0.160 | 11 | 68906074 | stop gained | G/A | snv | 7 | |||
rs200473652 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 7 | |
rs886041094 | 0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 | 7 | |
rs121913378 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 6 | |||
rs113994097 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 5 | |
rs1569146993 | 0.851 | 0.320 | 22 | 42211700 | frameshift variant | -/C | delins | 5 | |||
rs1554442015 | 0.851 | 0.120 | 7 | 19116970 | missense variant | G/C | snv | 5 | |||
rs1057518957 | 1.000 | 0.040 | 2 | 232535143 | missense variant | G/T | snv | 4 |