Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs3918188 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 10 | |||
rs743507 | 0.882 | 0.200 | 7 | 151010400 | intron variant | C/T | snv | 0.77 | 4 | ||
rs10952362 | 1.000 | 0.120 | 7 | 152565713 | regulatory region variant | T/C | snv | 0.25 | 1 | ||
rs2228146 | 0.925 | 0.120 | 1 | 154454574 | missense variant | G/A | snv | 1.3E-02; 4.0E-06 | 5.4E-02 | 3 | |
rs955333 | 0.882 | 0.240 | 6 | 154626274 | intergenic variant | A/G | snv | 0.13 | 3 | ||
rs12523822 | 1.000 | 0.120 | 6 | 154633286 | intergenic variant | C/G;T | snv | 1 | |||
rs3796268 | 0.925 | 0.200 | 3 | 155117435 | intron variant | T/C | snv | 0.30 | 2 | ||
rs3773885 | 0.925 | 0.200 | 3 | 155141792 | intron variant | G/A | snv | 0.33 | 2 | ||
rs10019835 | 1.000 | 0.120 | 4 | 155712034 | intron variant | T/A;C | snv | 1 | |||
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs2120243 | 0.925 | 0.200 | 3 | 157429779 | intron variant | A/C | snv | 0.59 | 3 | ||
rs2305619 | 0.882 | 0.240 | 3 | 157437072 | intron variant | A/G | snv | 0.55 | 0.50 | 3 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs143101792 | 0.851 | 0.320 | 1 | 159714026 | stop gained | G/C | snv | 8.8E-05 | 1.3E-04 | 5 | |
rs316019 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 8 | |
rs2457576 | 0.925 | 0.200 | 6 | 160444587 | intron variant | G/C | snv | 0.27 | 2 | ||
rs1567438 | 0.925 | 0.200 | 6 | 160458599 | intron variant | T/C | snv | 0.25 | 3 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs4667466 | 1.000 | 0.120 | 2 | 162832637 | intron variant | T/C | snv | 0.52 | 1 | ||
rs2229569 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 8 | ||
rs762285755 | 0.925 | 0.160 | 10 | 17114074 | missense variant | T/C | snv | 7.6E-05 | 2.8E-05 | 2 | |
rs12708815 | 1.000 | 0.120 | 16 | 17134511 | synonymous variant | G/A;C | snv | 0.56 | 1 | ||
rs61758388 | 0.851 | 0.360 | 16 | 17470454 | missense variant | C/A;G | snv | 2.7E-02 | 4 | ||
rs11915160 | 0.851 | 0.200 | 3 | 181713783 | 3 prime UTR variant | C/A | snv | 0.11 | 5 |