Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1169305 | 1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 | 2 | |
rs505151 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 18 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs5128 | 0.925 | 0.080 | 11 | 116832924 | 3 prime UTR variant | G/C | snv | 0.84 | 0.87 | 8 | |
rs767870 | 0.882 | 0.120 | 12 | 1780657 | intron variant | G/A;C | snv | 0.82 | 4 | ||
rs4149117 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 15 | ||
rs11574 | 1.000 | 0.040 | 1 | 23559007 | missense variant | T/A;C | snv | 0.80 | 2 | ||
rs560887 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 18 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs222747 | 0.827 | 0.240 | 17 | 3589906 | missense variant | C/A;G;T | snv | 0.72; 4.5E-06 | 8 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1801262 | 0.882 | 0.120 | 2 | 181678728 | missense variant | T/C | snv | 0.70 | 0.68 | 4 | |
rs3736544 | 0.882 | 0.160 | 4 | 55443825 | synonymous variant | A/G | snv | 0.70 | 0.69 | 4 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs4918 | 0.763 | 0.400 | 3 | 186620593 | missense variant | G/A;C | snv | 0.67 | 12 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs10010131 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 7 | |
rs5435 | 0.851 | 0.200 | 17 | 7283804 | missense variant | T/A;C | snv | 0.65 | 6 | ||
rs4606565 | 1.000 | 0.040 | 12 | 124954003 | splice region variant | A/G | snv | 0.65 | 0.57 | 2 | |
rs5219 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 25 |