Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs8177374 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 22 | |
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 | |
rs3765524 | 0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 | 17 | |
rs3205166 | 0.925 | 0.040 | 9 | 32459452 | synonymous variant | T/A;G | snv | 0.35 | 2 | ||
rs3739319 | 0.925 | 0.040 | 8 | 39927802 | intron variant | G/A | snv | 0.40 | 0.37 | 2 | |
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs1131454 | 0.882 | 0.040 | 12 | 112911065 | missense variant | G/A;C | snv | 0.57 | 3 | ||
rs4859584 | 1.000 | 0.040 | 4 | 76021984 | intron variant | G/C | snv | 0.61 | 0.61 | 1 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs10774671 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 14 | ||
rs15895 | 1.000 | 0.040 | 12 | 113010483 | stop lost | A/G;T | snv | 0.75 | 1 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2285932 | 0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 | 5 |