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 | 213 | |||
rs1458511470 | 2 | 201272639 | frameshift variant | -/C | delins | 2 | |||||
rs17524488 | 0.925 | 0.040 | 4 | 87975555 | non coding transcript exon variant | -/G | delins | 4 | |||
rs200182588 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 6 | ||
rs11267092 | 5 | 76715788 | intron variant | -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC | delins | 2 | |||||
rs10680577 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 10 | |||
rs866419664 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 5 | |||
rs3830675 | 1.000 | 0.040 | 10 | 87931195 | intron variant | -/TCTTA | delins | 3 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs17880560 | 17 | 7668169 | intron variant | -/TGGCCG | delins | 2 | |||||
rs71305152 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 5 | ||
rs397509239 | 1.000 | 17 | 43057122 | frameshift variant | A/- | del | 2 | ||||
rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs712 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 24 | ||
rs2239704 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 16 | ||
rs735482 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 16 | |
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 14 | ||
rs2072671 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 14 | |
rs7763881 | 0.776 | 0.160 | 6 | 8653014 | non coding transcript exon variant | A/C | snv | 0.44 | 11 | ||
rs1057519697 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 10 | |||
rs1204382931 | 0.790 | 0.160 | 2 | 38075270 | missense variant | A/C | snv | 4.3E-06 | 10 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 10 | ||
rs627928 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 10 | |
rs1566734 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 9 |