Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs200182588 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 6 | ||
rs67164370 | 0.851 | 0.120 | 20 | 4787830 | intron variant | -/AGGGACT | ins | 4 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs80357796 | 0.752 | 0.240 | 17 | 43094464 | frameshift variant | T/- | del | 11 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs1799750 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 48 | ||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs587776650 | 0.790 | 0.280 | 8 | 89971214 | frameshift variant | GTTTT/- | delins | 2.0E-04 | 11 | ||
rs80357750 | 0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins | 8 | |||
rs886039920 | 0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins | 7 | |||
rs1131691022 | 0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 6 | |||
rs63750695 | 0.851 | 0.280 | 7 | 5978675 | frameshift variant | AAGTT/- | delins | 6 | |||
rs587781803 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 5 | |||
rs80357517 | 0.827 | 0.200 | 17 | 43092277 | frameshift variant | -/T | delins | 5 | |||
rs80357669 | 0.851 | 0.200 | 17 | 43093074 | frameshift variant | G/- | delins | 5 | |||
rs80359477 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 5 | |||
rs1321845532 | 0.851 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins | 4 | |||
rs80357828 | 0.882 | 0.200 | 17 | 43092155 | frameshift variant | GA/- | delins | 3 | |||
rs869312774 | 0.925 | 0.160 | 16 | 23614019 | frameshift variant | T/- | delins | 3 | |||
rs1064795649 | 1.000 | 0.120 | 17 | 61799205 | frameshift variant | CT/- | delins | 2 | |||
rs367899983 | 1.000 | 0.120 | 9 | 16864524 | intron variant | GTCT/- | delins | 4.2E-05 | 2 |