Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519996 | 0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv | 19 | |||
rs866775781 | 0.716 | 0.440 | 17 | 7675216 | splice acceptor variant | C/A;G | snv | 17 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs11615 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 62 | |
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs104894229 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 73 | |||
rs104894230 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 73 | |||
rs1057519747 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 23 | |||
rs1057519887 | 0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv | 3 | |||
rs1057519904 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 17 | |||
rs1057519925 | 0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv | 25 | |||
rs1057519926 | 0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv | 10 | |||
rs1057519927 | 0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv | 19 | |||
rs1057519932 | 0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv | 22 | |||
rs1057519933 | 0.790 | 0.240 | 3 | 179199156 | missense variant | A/G | snv | 11 | |||
rs1057519934 | 0.790 | 0.240 | 3 | 179199158 | missense variant | G/C | snv | 11 | |||
rs1057519935 | 0.790 | 0.240 | 3 | 179199157 | missense variant | A/G | snv | 11 | |||
rs1057519936 | 0.776 | 0.200 | 3 | 179234284 | missense variant | A/G;T | snv | 11 | |||
rs1057519937 | 0.776 | 0.200 | 3 | 179234285 | missense variant | T/C | snv | 11 | |||
rs1057519940 | 0.752 | 0.200 | 3 | 179218308 | missense variant | G/T | snv | 13 | |||
rs1057519975 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 34 | |||
rs1057519977 | 0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv | 13 | |||
rs1057519978 | 0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv | 12 |