Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34445740 | 0.925 | 0.080 | 15 | 67183426 | intron variant | -/A | delins | 0.29 | 2 | ||
rs113092121 | 0.925 | 0.080 | 10 | 92624756 | intron variant | -/CTCT | delins | 2 | |||
rs149317277 | 0.925 | 0.080 | 7 | 20384300 | intron variant | -/GAAACAAGATTCT;GAACCAAGATTCT | delins | 0.36 | 2 | ||
rs11412402 | 0.925 | 0.080 | 3 | 128194003 | intron variant | -/T | ins | 0.65 | 2 | ||
rs140522418 | 0.925 | 0.080 | 11 | 128302942 | intergenic variant | A/-;AA | delins | 2 | |||
rs1342326 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 9 | ||
rs1775554 | 0.882 | 0.080 | 10 | 9012377 | intergenic variant | A/C | snv | 0.35 | 3 | ||
rs4790522 | 0.925 | 0.080 | 17 | 3566559 | 3 prime UTR variant | A/C | snv | 0.55 | 2 | ||
rs2051809 | 1.000 | 0.080 | 5 | 132721182 | intron variant | A/C | snv | 0.58 | 1 | ||
rs35141484 | 1.000 | 0.080 | 4 | 39086721 | synonymous variant | A/C | snv | 5.6E-03 | 2.2E-02 | 1 | |
rs8029377 | 1.000 | 0.080 | 15 | 59899786 | intergenic variant | A/C | snv | 3.1E-02 | 1 | ||
rs4969170 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 11 | ||
rs12531500 | 0.925 | 0.080 | 7 | 20504586 | intergenic variant | A/C;G | snv | 2 | |||
rs17103286 | 0.925 | 0.080 | 14 | 35415835 | regulatory region variant | A/C;G | snv | 2 | |||
rs8179521 | 1.000 | 0.080 | 2 | 127393348 | intron variant | A/C;G | snv | 1 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1805011 | 0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 | 8 | ||
rs2378383 | 1.000 | 0.080 | 9 | 79424447 | intergenic variant | A/C;G;T | snv | 1 | |||
rs2299012 | 0.925 | 0.080 | 5 | 132581248 | intron variant | A/C;T | snv | 2 | |||
rs7793837 | 1.000 | 0.080 | 7 | 30687161 | intron variant | A/C;T | snv | 1 | |||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs1801275 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 58 | |
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 |