Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35605815 | 0.925 | 0.040 | 1 | 55052407 | frameshift variant | -/T | ins | 2 | |||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
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 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs1801260 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 28 | ||
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs17321515 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 16 | ||
rs1004467 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 13 | |
rs1984112 | 0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 | 8 | ||
rs12449157 | 1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 | 4 | ||
rs41494349 | 0.882 | 0.080 | 11 | 68348021 | missense variant | A/G | snv | 1.9E-02 | 8.2E-03 | 4 | |
rs4148211 | 0.882 | 0.080 | 2 | 43844604 | missense variant | A/G | snv | 0.43 | 0.35 | 3 | |
rs879254906 | 0.882 | 0.080 | 19 | 11113630 | missense variant | A/G | snv | 3 | |||
rs776478288 | 0.925 | 0.080 | 6 | 46716518 | missense variant | A/G | snv | 2 | |||
rs4823613 | 1.000 | 0.040 | 22 | 46202410 | intron variant | A/G | snv | 0.30 | 1 | ||
rs879254894 | 1.000 | 0.040 | 19 | 11113593 | missense variant | A/G | snv | 1 | |||
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs11932595 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 12 | |||
rs3824260 | 0.742 | 0.160 | 8 | 58500631 | upstream gene variant | A/G;T | snv | 11 | |||
rs5888 | 0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 | 11 |