Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs527656756 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 21 | |
rs797044523 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 9 | ||||
rs1563765580 | 8 | 92017274 | frameshift variant | -/A | ins | 1 | |||||
rs1085307139 | 0.925 | 0.040 | 8 | 143817380 | frameshift variant | -/C | delins | 5 | |||
rs1057519369 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 13 | |||
rs1553538488 | 1.000 | 0.200 | 2 | 219570542 | frameshift variant | -/G | delins | 2 | |||
rs1567280099 | 16 | 4697038 | frameshift variant | -/G | delins | 1 | |||||
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs1057518799 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 7 | |||
rs879253753 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 19 | |||
rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
rs1553655558 | 0.752 | 0.360 | 2 | 229830831 | frameshift variant | A/- | delins | 43 | |||
rs1057518939 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 9 | |||
rs797044521 | 0.925 | 21 | 37480768 | frameshift variant | A/- | delins | 8 | ||||
rs782144677 | 1 | 147285398 | frameshift variant | A/- | del | 2.8E-05 | 2.1E-05 | 1 | |||
rs1064795104 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 17 | |||
rs397507517 | 0.827 | 0.160 | 12 | 112450497 | missense variant | A/C | snv | 8 | |||
rs1558053119 | 1 | 184717581 | missense variant | A/C | snv | 1 | |||||
rs1560814874 | 4 | 143528006 | missense variant | A/C | snv | 1 | |||||
rs1562456317 | 6 | 99508705 | missense variant | A/C | snv | 1 | |||||
rs540351799 | 1 | 29325243 | missense variant | A/C | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs113993993 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 9 | ||
rs397517150 | 0.827 | 0.160 | 2 | 39023118 | missense variant | A/C;G | snv | 6 | |||
rs730881014 | 0.776 | 0.360 | 1 | 155904494 | stop gained | A/C;G;T | snv | 15 | |||
rs121918461 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 8 |