Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs765379963 | 0.701 | 0.520 | 1 | 165743172 | stop gained | G/A | snv | 1.2E-05 | 2.1E-05 | 19 | |
rs1553154130 | 0.807 | 0.280 | 1 | 8358231 | missense variant | T/A;C | snv | 18 | |||
rs869312687 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 8 | |||
rs587779766 | 0.851 | 0.200 | 1 | 27549742 | frameshift variant | CA/- | delins | 7 | |||
rs587779767 | 0.851 | 0.200 | 1 | 27549218 | frameshift variant | G/- | delins | 7 | |||
rs587779768 | 0.851 | 0.200 | 1 | 27549569 | frameshift variant | G/- | delins | 7 | |||
rs869312689 | 0.925 | 0.160 | 1 | 244053934 | missense variant | T/C | snv | 5 | |||
rs878855328 | 0.882 | 0.120 | 1 | 11117039 | missense variant | C/T | snv | 4 | |||
rs1131692270 | 1.000 | 0.160 | 1 | 151412327 | missense variant | T/C | snv | 2 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs587777630 | 0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv | 16 | |||
rs869312704 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 10 | |||
rs1131692272 | 0.851 | 0.240 | 2 | 100006808 | missense variant | C/T | snv | 9 | |||
rs758865880 | 0.807 | 0.280 | 2 | 142956235 | stop gained | T/A | snv | 7.2E-05 | 4.9E-05 | 8 | |
rs770642379 | 0.807 | 0.280 | 2 | 143040430 | frameshift variant | TTTAAGC/- | delins | 3.2E-05 | 2.8E-05 | 8 | |
rs1057518950 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 7 | |||
rs546151500 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 5 | ||
rs864309531 | 0.882 | 0.400 | 2 | 216423668 | stop gained | G/T | snv | 5 | |||
rs869312663 | 0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv | 5 | |||
rs1447313633 | 1.000 | 2 | 218649090 | frameshift variant | TT/- | del | 4 | ||||
rs1559296368 | 1.000 | 2 | 218646330 | frameshift variant | C/- | del | 4 | ||||
rs766858016 | 0.882 | 0.200 | 2 | 25247710 | stop gained | T/A;G | snv | 4.0E-06 | 4 |