Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs121913482 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 45 | |||
rs121913485 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 18 | |||
rs121913105 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 30 | |||
rs6773854 | 1.000 | 0.120 | 3 | 187931631 | downstream gene variant | T/C | snv | 0.23 | 2 | ||
rs10190751 | 0.882 | 0.120 | 2 | 201141373 | splice acceptor variant | G/A | snv | 0.18 | 0.26 | 4 | |
rs2274084 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 6 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1800890 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 29 | ||
rs10494879 | 0.925 | 0.120 | 1 | 206778859 | intron variant | C/A;G | snv | 0.36 | 3 | ||
rs6676671 | 0.882 | 0.160 | 1 | 206779403 | intron variant | T/A | snv | 0.32 | 4 | ||
rs2466571 | 0.925 | 0.120 | 1 | 207766701 | intron variant | G/T | snv | 0.46 | 3 | ||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs121913529 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 144 | ||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs1057519781 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 9 | |||
rs1346044 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 23 | |
rs3099844 | 0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 | 13 | ||
rs2071286 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 12 | ||
rs9268853 | 0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 | 10 | ||
rs2395185 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 17 | ||
rs9461776 | 0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 | 11 | ||
rs4530903 | 6 | 32614112 | intergenic variant | C/T | snv | 0.10 | 1 |