Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386834055 | 0.925 | 0.320 | 8 | 99853469 | frameshift variant | -/A | delins | 9 | |||
rs796051881 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 9 | |||
rs797044523 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 9 | ||||
rs724159954 | 21 | 37490353 | frameshift variant | -/A | delins | 6 | |||||
rs761964407 | 1.000 | 6 | 158114826 | frameshift variant | -/ATAG | delins | 1.5E-04 | 1.5E-04 | 4 | ||
rs1057518821 | 1.000 | 1 | 42930671 | frameshift variant | -/C | delins | 5 | ||||
rs1553370260 | 0.925 | 0.320 | 2 | 15942129 | frameshift variant | -/CGCT | delins | 4 | |||
rs724159952 | 21 | 37490451 | frameshift variant | -/G | delins | 6 | |||||
rs724159956 | 21 | 37496249 | frameshift variant | -/G | delins | 6 | |||||
rs1057519012 | 1.000 | 22 | 41147864 | frameshift variant | -/G | delins | 2 | ||||
rs1555727493 | 0.742 | 0.480 | 19 | 35718020 | frameshift variant | -/GGCGGGCGGCGGC | delins | 46 | |||
rs869312704 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 10 | |||
rs786200952 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 13 | |||
rs730882198 | 0.851 | 0.200 | 13 | 36314259 | frameshift variant | -/T | delins | 1.2E-05 | 6 | ||
rs1085307132 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 5 | |||
rs886039809 | 0.807 | 0.480 | 14 | 58498824 | frameshift variant | A/- | del | 11 | |||
rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
rs797044521 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 8 | ||||
rs372292910 | 1.000 | 0.040 | 5 | 141122905 | frameshift variant | A/-;AA | delins | 1.7E-04 | 3 | ||
rs1554208945 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 26 | |||
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs1555103652 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 11 | |||
rs772887102 | 0.807 | 0.200 | 6 | 87548623 | missense variant | A/C | snv | 2.2E-04 | 2.8E-05 | 9 | |
rs1060499740 | 14 | 102348559 | stop lost | A/C | snv | 3 |