Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6496589 | 1.000 | 0.080 | 15 | 89669998 | missense variant | G/C;T | snv | 0.93; 4.1E-06 | 1 | ||
rs1956549 | 1.000 | 0.080 | 14 | 60461483 | intron variant | G/A | snv | 0.87 | 0.82 | 1 | |
rs136175 | 0.925 | 0.120 | 22 | 36265520 | missense variant | G/A;C;T | snv | 0.84; 4.0E-06 | 2 | ||
rs2057482 | 0.701 | 0.440 | 14 | 61747130 | 3 prime UTR variant | T/C | snv | 0.84 | 0.80 | 21 | |
rs2275848 | 0.925 | 0.120 | 9 | 93125038 | missense variant | G/T | snv | 0.81 | 0.77 | 2 | |
rs2239785 | 0.827 | 0.240 | 22 | 36265284 | missense variant | G/A | snv | 0.79 | 0.68 | 5 | |
rs695872 | 0.925 | 0.120 | 12 | 111599125 | synonymous variant | G/A | snv | 0.79 | 0.61 | 2 | |
rs1981529 | 0.925 | 0.080 | 7 | 88284046 | missense variant | C/A;T | snv | 0.78 | 2 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs3745318 | 1.000 | 0.080 | 19 | 16325451 | missense variant | T/C | snv | 0.75 | 0.82 | 2 | |
rs2229113 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 10 | |
rs1801253 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 34 | |
rs689 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 9 | |
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs3736544 | 0.882 | 0.160 | 4 | 55443825 | synonymous variant | A/G | snv | 0.70 | 0.69 | 4 | |
rs1127568 | 1.000 | 0.080 | 2 | 24823221 | synonymous variant | T/C;G | snv | 0.69; 4.0E-06 | 1 | ||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs235326 | 0.925 | 0.200 | 21 | 44891898 | synonymous variant | A/C;G | snv | 0.68 | 2 | ||
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 | |
rs4917 | 0.790 | 0.160 | 3 | 186619924 | missense variant | T/C | snv | 0.68 | 0.68 | 9 | |
rs8192673 | 0.925 | 0.120 | 2 | 164497202 | intron variant | C/A;T | snv | 4.0E-06; 0.67 | 2 | ||
rs1642785 | 0.807 | 0.200 | 17 | 7676483 | 5 prime UTR variant | G/A;C;T | snv | 1.2E-05; 0.67; 2.8E-05 | 6 | ||
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 |