Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2286466 | 1.000 | 0.080 | 16 | 1964282 | synonymous variant | A/G | snv | 0.81 | 0.86 | 1 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 1 | ||
rs1801253 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 6 | |
rs2274115 | 1.000 | 0.080 | 9 | 136202927 | intron variant | A/G | snv | 0.66 | 0.72 | 1 | |
rs6795970 | 0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 | 3 | |
rs5215 | 0.827 | 0.160 | 11 | 17387083 | missense variant | C/T | snv | 0.64 | 0.71 | 2 | |
rs883079 | 1.000 | 0.080 | 12 | 114355435 | 3 prime UTR variant | C/G;T | snv | 1.8E-05; 0.61 | 3 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 3 | |
rs133902 | 1.000 | 0.080 | 22 | 25768112 | splice region variant | C/G;T | snv | 8.7E-06; 0.54 | 1 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 7 | ||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 1 | |
rs762624 | 0.851 | 0.280 | 6 | 36677811 | non coding transcript exon variant | A/C;T | snv | 0.37; 2.4E-05 | 2 | ||
rs1046934 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 2 | ||
rs2306272 | 1.000 | 0.080 | 3 | 66384219 | missense variant | T/C | snv | 0.31 | 0.25 | 2 | |
rs12298484 | 1.000 | 0.080 | 12 | 123934127 | non coding transcript exon variant | C/T | snv | 0.28 | 0.32 | 1 | |
rs2108622 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 2 | |
rs2288327 | 1.000 | 0.080 | 2 | 178546938 | intron variant | A/G | snv | 0.23 | 0.22 | 1 | |
rs1805123 | 0.724 | 0.280 | 7 | 150948446 | missense variant | T/A;C;G | snv | 1.3E-05; 0.18; 8.4E-06 | 1 | ||
rs11552708 | 0.882 | 0.240 | 17 | 7559238 | missense variant | G/A;C | snv | 0.13; 4.2E-06 | 1 | ||
rs2040862 | 1.000 | 0.080 | 5 | 138084300 | intron variant | C/T | snv | 0.13 | 0.13 | 1 | |
rs5063 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 1 | |
rs140185678 | 1.000 | 0.080 | 16 | 1953015 | missense variant | G/A | snv | 2.5E-02 | 2.5E-02 | 1 | |
rs2296610 | 1.000 | 0.080 | 10 | 20868692 | missense variant | G/T | snv | 2.0E-02 | 1.1E-02 | 1 | |
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 21 | |
rs1805128 | 0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 | 1 |