Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1136410 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 70 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs2229569 | 0.790 | 0.360 | 1 | 169704697 | missense variant | G/A;T | snv | 0.21; 3.2E-05 | 8 | ||
rs143101792 | 0.851 | 0.320 | 1 | 159714026 | stop gained | G/C | snv | 8.8E-05 | 1.3E-04 | 5 | |
rs710218 | 0.882 | 0.280 | 1 | 42961547 | intron variant | T/A | snv | 0.38 | 5 | ||
rs841853 | 0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 | 4 | ||
rs16835198 | 0.882 | 0.200 | 1 | 32861080 | downstream gene variant | G/T | snv | 0.29 | 3 | ||
rs2228146 | 0.925 | 0.120 | 1 | 154454574 | missense variant | G/A | snv | 1.3E-02; 4.0E-06 | 5.4E-02 | 3 | |
rs17300593 | 0.925 | 0.160 | 1 | 58637536 | intergenic variant | C/G | snv | 2 | |||
rs2796498 | 0.925 | 0.160 | 1 | 56678313 | intron variant | A/G | snv | 0.47 | 2 | ||
rs3820589 | 0.925 | 0.200 | 1 | 42960373 | intron variant | A/T | snv | 8.3E-02 | 2 | ||
rs6704078 | 0.925 | 0.200 | 1 | 216437370 | intergenic variant | C/T | snv | 0.94 | 2 | ||
rs2780902 | 1.000 | 0.120 | 1 | 64863417 | intron variant | C/T | snv | 0.35 | 1 | ||
rs3765156 | 1.000 | 0.120 | 1 | 204455900 | synonymous variant | G/A | snv | 0.19 | 0.15 | 1 | |
rs11887534 | 0.653 | 0.440 | 2 | 43839108 | missense variant | G/A;C | snv | 6.4E-06; 6.7E-02 | 29 | ||
rs7588550 | 0.851 | 0.160 | 2 | 212304043 | intron variant | G/A | snv | 0.96 | 4 |