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 | 213 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs1902023 | 0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 | 4 | |
rs627928 | 0.790 | 0.080 | 1 | 182582202 | missense variant | A/C | snv | 0.54 | 0.49 | 10 | |
rs17879961 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 45 | ||
rs2735839 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 5 | |||
rs28366003 | 0.763 | 0.240 | 16 | 56608579 | upstream gene variant | A/C;G | snv | 4.6E-02 | 10 | ||
rs565453 | 0.882 | 0.160 | 5 | 112849696 | intron variant | A/C;G | snv | 4 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 110 | ||
rs1799977 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 28 | ||
rs35767 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 13 | |||
rs3822214 | 0.732 | 0.240 | 4 | 54727298 | missense variant | A/C;G;T | snv | 7.7E-02; 8.0E-06 | 13 | ||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 28 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 37 | ||
rs699947 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 67 | |||
rs10993994 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 10 | ||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs1197734477 | 0.925 | 0.080 | 10 | 87961012 | missense variant | A/G | snv | 4 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs13281615 | 0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 | 17 | ||
rs137852578 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 9 | |||
rs16901946 | 0.827 | 0.160 | 8 | 127088680 | non coding transcript exon variant | A/G | snv | 1.7E-02 | 8 | ||
rs16901966 | 0.925 | 0.080 | 8 | 127098007 | intron variant | A/G | snv | 0.13 | 3 | ||
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 187 | |
rs1800682 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 25 |