Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs6295 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 40 | ||
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 38 | ||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs6314 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 23 | |
rs1799990 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 23 | |
rs1805097 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 22 | ||
rs4906902 | 0.724 | 0.200 | 15 | 26774621 | intron variant | A/G | snv | 0.15 | 14 | ||
rs61738009 | 0.827 | 0.080 | 8 | 67483807 | stop gained | C/A;T | snv | 4.0E-06; 2.0E-03 | 2.5E-03 | 11 | |
rs4523957 | 0.790 | 0.120 | 17 | 2305605 | intron variant | G/T | snv | 0.54 | 9 | ||
rs3812718 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 8 | ||
rs104894718 | 0.790 | 0.160 | 19 | 35033654 | stop gained | C/A;G;T | snv | 4.0E-06 | 8 | ||
rs35753505 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 6 | |||
rs2986017 | 0.851 | 0.120 | 10 | 103458495 | missense variant | A/G | snv | 0.79 | 0.80 | 6 | |
rs10868235 | 0.925 | 0.040 | 9 | 84878840 | intron variant | C/T | snv | 0.40 | 6 | ||
rs1799768 | 0.807 | 0.360 | 7 | 101126425 | upstream gene variant | -/A;C | ins | 6 | |||
rs118192250 | 0.851 | 0.120 | 8 | 132175457 | missense variant | C/A | snv | 5 | |||
rs1867283 | 0.925 | 0.080 | 9 | 84835851 | intron variant | G/A | snv | 0.39 | 5 | ||
rs16990018 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 5 | |
rs17110747 | 0.882 | 0.120 | 12 | 72032174 | 3 prime UTR variant | G/A | snv | 0.12 | 4 | ||
rs2020918 | 0.925 | 0.080 | 8 | 42214920 | intergenic variant | A/G | snv | 0.71 | 2 |