Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs7089424 | 0.752 | 0.200 | 10 | 61992400 | intron variant | T/G | snv | 0.32 | 10 | ||
rs4132601 | 0.763 | 0.240 | 7 | 50402906 | 3 prime UTR variant | T/G | snv | 0.25 | 9 | ||
rs12669559 | 1.000 | 0.120 | 7 | 50368079 | synonymous variant | T/G | snv | 0.35 | 0.32 | 3 | |
rs61754966 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 23 | ||
rs1142345 | 0.776 | 0.280 | 6 | 18130687 | missense variant | T/C;G | snv | 3.7E-02 | 9 | ||
rs6479778 | 0.827 | 0.200 | 10 | 61929318 | intron variant | T/C;G | snv | 5 | |||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs153109 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 37 | ||
rs16754 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 15 | |
rs2290400 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 9 | ||
rs2036914 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 5 | ||
rs17007695 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 4 | ||
rs149940960 | 1.000 | 0.120 | 2 | 11641492 | 3 prime UTR variant | T/C | snv | 1.0E-02 | 3 | ||
rs3781093 | 0.882 | 0.120 | 10 | 8059964 | intron variant | T/C | snv | 0.19 | 3 | ||
rs4245555 | 1.000 | 0.120 | 7 | 50593712 | intron variant | T/C | snv | 0.32 | 3 | ||
rs637868 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 3 | ||
rs920590 | 1.000 | 0.120 | 8 | 19793650 | regulatory region variant | T/C | snv | 0.39 | 3 | ||
rs3887825 | 1.000 | 0.120 | 7 | 50477395 | intron variant | T/C | snv | 0.56 | 2 | ||
rs408626 | 0.925 | 0.120 | 5 | 80655314 | non coding transcript exon variant | T/C | snv | 0.48 | 2 | ||
rs1037351 | 1.000 | 0.120 | 7 | 50497706 | intron variant | T/C | snv | 0.30 | 1 | ||
rs12719039 | 1.000 | 0.120 | 7 | 50351251 | intron variant | T/C | snv | 0.25 | 1 | ||
rs1569175 | 1.000 | 0.120 | 2 | 200157231 | intergenic variant | T/C | snv | 0.88 | 1 |