Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs197922 | 0.925 | 0.080 | 17 | 46931204 | missense variant | G/A | snv | 0.35 | 0.33 | 3 | |
rs2067853 | 0.851 | 0.160 | 1 | 230702512 | downstream gene variant | G/A | snv | 0.25 | 5 | ||
rs243866 | 0.827 | 0.120 | 16 | 55477625 | intron variant | G/A | snv | 0.19 | 8 | ||
rs367732974 | 0.790 | 0.360 | 13 | 113105788 | 5 prime UTR variant | G/A | snv | 8.9E-05 | 2.8E-05 | 9 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs708272 | 0.708 | 0.440 | 16 | 56962376 | intron variant | G/A | snv | 0.42 | 0.38 | 24 | |
rs72653706 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 32 | |
rs755703581 | 0.925 | 0.120 | 13 | 27920295 | missense variant | G/A | snv | 2.3E-05 | 7.0E-06 | 3 | |
rs7913948 | 1.000 | 0.080 | 10 | 45373441 | upstream gene variant | G/A | snv | 0.17 | 3 | ||
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs11739136 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 10 | |
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs12487736 | 1.000 | 0.080 | 3 | 47418189 | missense variant | C/T | snv | 0.54 | 0.47 | 2 | |
rs1462059537 | 0.882 | 0.160 | 4 | 147535944 | missense variant | C/T | snv | 8.0E-06 | 4 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs2070744 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 54 | ||
rs2108622 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 20 | |
rs2149954 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 5 | ||
rs2890565 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 15 |