Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs143046984 | 0.790 | 0.080 | 14 | 70937529 | intron variant | -/A | delins | 4.2E-02 | 9 | ||
rs6147150 | 0.827 | 0.160 | 2 | 211380365 | 3 prime UTR variant | -/AAAATAGGATTG | delins | 5 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs202110856 | 0.790 | 0.080 | 5 | 96794169 | intron variant | -/C | delins | 2.1E-05 | 9 | ||
rs771306418 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 5 | |||
rs587780078 | 0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 | 4 | |
rs28360317 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 15 | ||
rs1567755946 | 0.925 | 0.080 | 17 | 65537563 | frameshift variant | -/CGCGGGAGGCAGC | delins | 2 | |||
rs863223400 | 1.000 | 0.080 | 8 | 56073724 | frameshift variant | -/T | delins | 1 | |||
rs377429877 | 0.776 | 0.080 | 13 | 33518027 | intron variant | -/TAA | delins | 6.0E-02 | 10 | ||
rs10680577 | 0.776 | 0.160 | 19 | 40798690 | intron variant | -/TACT | delins | 10 | |||
rs70991108 | 0.807 | 0.280 | 5 | 80654344 | intron variant | -/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT | ins | 0.51 | 6 | ||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs587776642 | 1.000 | 0.080 | 2 | 110638153 | frameshift variant | A/- | del | 1 | |||
rs587776687 | 1.000 | 0.080 | 3 | 12392683 | frameshift variant | A/- | delins | 1 | |||
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 | ||
rs2069762 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 23 | ||
rs16892766 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 18 | ||
rs735482 | 0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 | 16 | |
rs6058093 | 0.776 | 0.080 | 20 | 34625392 | intron variant | A/C | snv | 0.55 | 12 | ||
rs1105879 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 11 | |
rs7763881 | 0.776 | 0.160 | 6 | 8653014 | non coding transcript exon variant | A/C | snv | 0.44 | 11 | ||
rs1566734 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 10 | |
rs9924886 | 0.776 | 0.080 | 16 | 68710036 | intron variant | A/C | snv | 0.25 | 10 |