Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs669661 | 11 | 57380702 | missense variant | A/G | snv | 0.99 | 0.96 | 1 | |||
rs783396 | 1.000 | 0.080 | 6 | 106539495 | missense variant | A/C | snv | 0.93 | 0.93 | 2 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs1043994 | 0.827 | 0.120 | 19 | 15192033 | synonymous variant | T/A;C | snv | 4.0E-06; 0.85 | 7 | ||
rs650439 | 1.000 | 0.080 | 13 | 33061802 | intron variant | T/A | snv | 0.82 | 0.81 | 3 | |
rs1051931 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 19 | |
rs2288904 | 0.807 | 0.240 | 19 | 10631494 | missense variant | A/G | snv | 0.80 | 0.83 | 8 | |
rs2986017 | 0.851 | 0.120 | 10 | 103458495 | missense variant | A/G | snv | 0.79 | 0.80 | 6 | |
rs10848683 | 12 | 2681964 | missense variant | C/T | snv | 4.0E-06; 0.78 | 0.71 | 1 | |||
rs11628722 | 14 | 94464768 | missense variant | A/G | snv | 0.78 | 0.71 | 1 | |||
rs42524 | 0.827 | 0.160 | 7 | 94413927 | missense variant | C/A;G;T | snv | 8.0E-06; 0.77; 8.0E-06 | 6 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1799883 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 36 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs2229383 | 1.000 | 0.080 | 19 | 10683954 | synonymous variant | G/A;C;T | snv | 4.0E-06; 0.68 | 2 | ||
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs4636297 | 0.724 | 0.360 | 9 | 136670698 | intron variant | A/G | snv | 0.67 | 0.65 | 14 | |
rs218966 | 7 | 10982603 | missense variant | A/G | snv | 0.64 | 0.68 | 2 | |||
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs713041 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 16 | ||
rs1480544 | 4 | 170066485 | splice region variant | A/G;T | snv | 0.57; 4.0E-04 | 1 | ||||
rs5070 | 0.882 | 0.160 | 11 | 116837304 | intron variant | A/G | snv | 0.56 | 0.60 | 5 |