Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs642961 | 0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 | 14 | ||
rs2235371 | 0.752 | 0.360 | 1 | 209790735 | missense variant | C/T | snv | 8.7E-02 | 3.9E-02 | 11 | |
rs12532 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 10 | ||
rs1546124 | 0.807 | 0.200 | 16 | 84838445 | 5 prime UTR variant | G/A;C | snv | 8.6E-06; 0.67 | 7 | ||
rs201002930 | 0.827 | 0.200 | 2 | 218889997 | synonymous variant | C/T | snv | 3.2E-05 | 7.0E-06 | 6 | |
rs4783099 | 0.827 | 0.200 | 16 | 84907723 | 3 prime UTR variant | C/T | snv | 0.37 | 6 | ||
rs2166975 | 0.827 | 0.240 | 2 | 70450862 | synonymous variant | G/A | snv | 0.24 | 0.23 | 5 | |
rs2326398 | 0.827 | 0.200 | 16 | 84869111 | intron variant | A/G | snv | 0.37 | 5 | ||
rs1139 | 0.851 | 0.200 | 2 | 179745354 | intron variant | C/T | snv | 0.22 | 4 | ||
rs197204 | 0.851 | 0.200 | 4 | 109576918 | intron variant | C/G | snv | 0.52 | 4 | ||
rs6757845 | 0.851 | 0.200 | 2 | 179449268 | intron variant | T/C | snv | 0.66 | 4 | ||
rs7552 | 0.882 | 0.120 | 2 | 16552660 | splice region variant | A/G | snv | 0.44 | 3 |