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 | |||
rs1554122123 | 0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins | 5 | |||
rs1555740394 | 0.882 | 0.120 | 19 | 49595234 | frameshift variant | -/ACCACCC | delins | 5 | |||
rs1554121671 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 4 | ||||
rs777843533 | 0.925 | 0.160 | 10 | 79307487 | frameshift variant | -/C | delins | 3 | |||
rs869312877 | 0.925 | 0.160 | 15 | 92997299 | frameshift variant | -/G | delins | 3 | |||
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs869312704 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 10 | |||
rs786200952 | 0.851 | 0.120 | 8 | 41934340 | frameshift variant | -/T | delins | 13 | |||
rs1555013332 | 0.882 | 0.160 | 11 | 70661635 | frameshift variant | -/T | delins | 4 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1555247805 | 0.925 | 0.160 | 12 | 116008442 | frameshift variant | A/- | del | 4 | |||
rs312262717 | 0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins | 18 | |||
rs752746786 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 30 | ||
rs1569309484 | 0.807 | 0.200 | X | 74591586 | missense variant | A/G | snv | 13 | |||
rs1566785990 | 0.851 | 0.120 | 14 | 77026534 | missense variant | A/G | snv | 12 | |||
rs1060499733 | 0.851 | 0.120 | 3 | 47846757 | missense variant | A/G | snv | 11 | |||
rs1554122526 | 0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv | 9 | |||
rs1085308051 | 0.882 | 0.200 | 10 | 87933229 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs587782994 | 0.882 | 0.080 | 5 | 140114470 | missense variant | A/G | snv | 6 | |||
rs869312663 | 0.882 | 0.200 | 2 | 165381114 | missense variant | A/G | snv | 5 | |||
rs397517077 | 0.851 | 0.320 | 11 | 119278162 | splice acceptor variant | AAAG/- | del | 10 | |||
rs118192212 | 0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins | 6 | |||
rs875989830 | 0.925 | 0.200 | 2 | 199348742 | frameshift variant | AC/- | delins | 4 | |||
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 |