Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs56885347 | 1.000 | 0.120 | 14 | 80992418 | 3 prime UTR variant | -/AAA | delins | 1 | |||
rs3753793 | 0.851 | 0.240 | 1 | 85580205 | upstream gene variant | A/C | snv | 0.26 | 4 | ||
rs630379 | 0.882 | 0.200 | 6 | 31954477 | intron variant | A/C | snv | 0.77 | 0.79 | 3 | |
rs661561 | 0.882 | 0.200 | 6 | 137876194 | intron variant | A/C | snv | 0.62 | 0.50 | 3 | |
rs5912838 | 0.925 | 0.280 | X | 79241621 | intergenic variant | A/C | snv | 2 | |||
rs1044043 | 1.000 | 0.120 | 6 | 32826204 | 3 prime UTR variant | A/C | snv | 0.82 | 1 | ||
rs368397331 | 1.000 | 0.120 | 6 | 167004623 | intron variant | A/C | snv | 1 | |||
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 46 | ||
rs4969170 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 11 | ||
rs2723176 | 0.851 | 0.200 | 2 | 112914932 | intron variant | A/C;G | snv | 4 | |||
rs11652878 | 0.925 | 0.160 | 17 | 3751686 | missense variant | A/C;G | snv | 4.0E-06; 0.12 | 2 | ||
rs111033304 | 1.000 | 0.120 | 7 | 107683334 | missense variant | A/C;G | snv | 1.0E-03 | 1 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10735810 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 26 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs17855750 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 21 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs2569190 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 39 | ||
rs187084 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 36 | ||
rs3742330 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 24 |