Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs7975232 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 56 | |
rs750898115 | 0.882 | 0.080 | 4 | 75787191 | missense variant | A/G | snv | 1.0E-05 | 3.5E-05 | 4 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs3775291 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 51 | ||
rs8177374 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 22 | |
rs6141 | 0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 | 4 | ||
rs739496 | 0.790 | 0.160 | 12 | 111449855 | 3 prime UTR variant | A/G | snv | 0.27 | 10 | ||
rs3765524 | 0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 | 17 | |
rs3740360 | 0.827 | 0.240 | 10 | 94265734 | intron variant | A/C | snv | 9.7E-02 | 8.4E-02 | 7 | |
rs2072136 | 0.851 | 0.120 | 12 | 112961114 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 6 | ||
rs2285932 | 0.851 | 0.120 | 12 | 112949145 | synonymous variant | T/C | snv | 0.76 | 0.78 | 5 | |
rs15895 | 1.000 | 0.040 | 12 | 113010483 | stop lost | A/G;T | snv | 0.75 | 1 | ||
rs10774671 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 14 | ||
rs1131454 | 0.882 | 0.040 | 12 | 112911065 | missense variant | G/A;C | snv | 0.57 | 3 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs3132468 | 0.827 | 0.240 | 6 | 31507709 | intron variant | C/T | snv | 0.77 | 5 | ||
rs1799964 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 47 | ||
rs371057322 | 0.925 | 0.040 | 2 | 8793960 | missense variant | T/C | snv | 1.4E-05 | 2 | ||
rs8192284 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 19 | |||
rs1805016 | 0.882 | 0.080 | 16 | 27363606 | missense variant | T/G | snv | 6.4E-02 | 0.13 | 3 | |
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs12252 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 23 |