Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs616338 | 0.925 | 0.080 | 17 | 49219935 | missense variant | T/C | snv | 0.99 | 0.99 | 2 | |
rs4844609 | 1.000 | 0.080 | 1 | 207609571 | missense variant | A/T | snv | 0.99 | 0.99 | 1 | |
rs908832 | 0.851 | 0.120 | 9 | 137018032 | missense variant | A/C;G | snv | 0.97 | 0.96 | 4 | |
rs3211892 | 1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 | 2 | |
rs1042114 | 0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 | 6 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs2250889 | 0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 | 24 | ||
rs3752246 | 1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 | 2 | ||
rs2296160 | 0.925 | 0.120 | 1 | 207621975 | missense variant | A/G | snv | 0.82 | 0.81 | 2 | |
rs3760627 | 1.000 | 0.080 | 19 | 44953923 | non coding transcript exon variant | T/C | snv | 0.80 | 0.51 | 2 | |
rs1256429 | 1.000 | 0.080 | 15 | 82852284 | non coding transcript exon variant | C/T | snv | 0.79 | 0.83 | 1 | |
rs2986017 | 0.851 | 0.120 | 10 | 103458495 | missense variant | A/G | snv | 0.79 | 0.80 | 6 | |
rs592297 | 0.925 | 0.080 | 11 | 86014894 | synonymous variant | C/T | snv | 0.78 | 0.82 | 2 | |
rs6971 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 11 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2227564 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 15 | |
rs514492 | 0.882 | 0.160 | 9 | 35062975 | splice region variant | C/T | snv | 0.75 | 0.75 | 3 | |
rs1476679 | 0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 | 2 | ||
rs316341 | 1.000 | 0.080 | 6 | 2838014 | intron variant | G/A | snv | 0.72 | 0.70 | 1 | |
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3746319 | 1.000 | 0.080 | 19 | 44108078 | missense variant | A/G | snv | 0.71 | 0.70 | 1 | |
rs2230808 | 0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 | 6 | |
rs10719 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 24 | ||
rs2532500 | 1.000 | 0.080 | 12 | 6453644 | missense variant | A/G;T | snv | 0.68; 4.0E-06 | 1 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 |