Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs1057519915 | 0.851 | 0.160 | 1 | 11109318 | missense variant | A/C | snv | 5 | |||
rs4662750 | 1.000 | 0.120 | 2 | 127634972 | non coding transcript exon variant | A/C | snv | 0.69 | 1 | ||
rs6470588 | 1.000 | 0.120 | 8 | 127877125 | intron variant | A/C | snv | 0.53 | 1 | ||
rs1057520001 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 23 | |||
rs1057520002 | 0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv | 20 | |||
rs121913243 | 0.827 | 0.160 | 7 | 116777410 | missense variant | A/C;G | snv | 1.2E-05 | 7 | ||
rs7859384 | 0.882 | 0.120 | 9 | 79507370 | intron variant | A/C;G | snv | 6 | |||
rs6937133 | 0.925 | 0.120 | 6 | 39832238 | intron variant | A/C;G | snv | 2 | |||
rs11637556 | 1.000 | 0.120 | 15 | 66436613 | intron variant | A/C;G | snv | 1 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs121913274 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 33 | |||
rs530941076 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 21 | ||
rs967461896 | 0.724 | 0.240 | 17 | 7675086 | missense variant | A/C;G;T | snv | 17 | |||
rs876660333 | 0.742 | 0.360 | 17 | 7673805 | missense variant | A/C;G;T | snv | 13 | |||
rs1057519978 | 0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv | 12 | |||
rs132793 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 7 | |||
rs869025621 | 0.882 | 0.240 | 3 | 10142079 | missense variant | A/C;G;T | snv | 4 | |||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs17855750 | 0.695 | 0.480 | 16 | 28503907 | missense variant | A/C;T | snv | 6.4E-02; 4.0E-06 | 21 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 |