Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519912 | 0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv | 11 | |||
rs73637412 | 0.882 | 0.160 | X | 137030751 | missense variant | C/G;T | snv | 3.5E-03; 1.5E-03 | 4 | ||
rs80291436 | 1.000 | 0.080 | X | 7843706 | missense variant | T/A;C;G | snv | 4.9E-05; 0.19 | 3 | ||
rs753066745 | X | 81277164 | missense variant | C/T | snv | 1.7E-05 | 9.5E-06 | 2 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 | |||
rs132770 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 14 | ||
rs5751129 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 14 | ||
rs132793 | 0.851 | 0.160 | 22 | 41667677 | downstream gene variant | A/C;G;T | snv | 7 | |||
rs776935407 | 0.851 | 0.080 | 22 | 40409261 | missense variant | T/A | snv | 4.1E-06 | 6 | ||
rs2073859 | 0.882 | 0.120 | 22 | 31278567 | 3 prime UTR variant | G/A | snv | 4.0E-02 | 4 | ||
rs5999749 | 0.925 | 0.080 | 22 | 21833371 | intron variant | A/C;T | snv | 3 | |||
rs74751600 | 22 | 28695852 | missense variant | T/C | snv | 3 | |||||
rs1202989817 | 0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 | 18 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs121913495 | 0.672 | 0.400 | 20 | 58909366 | missense variant | G/A;T | snv | 28 | |||
rs1569686 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 15 | |||
rs2423279 | 0.790 | 0.080 | 20 | 7831703 | downstream gene variant | T/C | snv | 0.29 | 10 | ||
rs769394388 | 20 | 44355829 | missense variant | G/A;T | snv | 1 | |||||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs13181 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 134 | ||
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 |