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 | |||
rs146052672 | 0.851 | 0.160 | 6 | 34242693 | intron variant | -/C | delins | 5 | |||
rs10946398 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 7 | ||
rs1541276 | 0.925 | 0.120 | 18 | 13825728 | splice region variant | A/C | snv | 0.17 | 0.19 | 2 | |
rs201739205 | 0.851 | 0.200 | 17 | 42552898 | 5 prime UTR variant | A/C | snv | 7.8E-03 | 8.2E-03 | 5 | |
rs35036378 | 0.851 | 0.200 | 14 | 64294403 | 5 prime UTR variant | A/C | snv | 7.0E-03 | 5 | ||
rs7713645 | 0.851 | 0.200 | 5 | 68231498 | intron variant | A/C | snv | 0.58 | 4 | ||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs4923461 | 0.925 | 0.120 | 11 | 27635363 | intron variant | A/C;G | snv | 5 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs35767 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 13 | |||
rs3923113 | 0.882 | 0.120 | 2 | 164645339 | intergenic variant | A/C;G;T | snv | 3 | |||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs2237895 | 0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv | 10 | |||
rs7041 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 64 | ||
rs10010131 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 7 | |
rs10146997 | 0.827 | 0.240 | 14 | 79478819 | intron variant | A/G | snv | 0.25 | 6 | ||
rs10885406 | 0.925 | 0.120 | 10 | 113017965 | intron variant | A/G | snv | 0.55 | 2 | ||
rs10938397 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 19 | ||
rs10968576 | 0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 | 10 | ||
rs11075990 | 0.925 | 0.120 | 16 | 53785981 | intron variant | A/G | snv | 0.41 | 6 | ||
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |