Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs569033466 | 0.882 | 0.160 | 16 | 56961929 | 5 prime UTR variant | G/A;C;T | snv | 4.8E-05; 2.4E-05 | 6 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs4142986 | 0.925 | 0.040 | 9 | 99052344 | intron variant | C/A;G;T | snv | 1.1E-04; 0.75; 4.0E-06 | 2 | ||
rs4773144 | 0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 | 7 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1298417395 | 0.882 | 0.080 | 1 | 176206716 | missense variant | C/T | snv | 1.4E-05 | 4 | ||
rs3811381 | 0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 | 11 | ||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs3091244 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 17 | |||
rs1378942 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 16 | |||
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 48 | |
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 | |
rs2277680 | 0.776 | 0.160 | 17 | 4735268 | missense variant | G/A | snv | 0.47 | 0.41 | 10 | |
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs563558831 | 0.776 | 0.320 | 19 | 40991226 | upstream gene variant | T/C | snv | 7.0E-06 | 11 | ||
rs1314386070 | 0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 | 9 | ||
rs12347433 | 0.882 | 0.040 | 9 | 115035318 | synonymous variant | T/C | snv | 0.23 | 0.21 | 3 | |
rs1282382243 | 0.807 | 0.120 | 13 | 50843630 | missense variant | G/A | snv | 8 | |||
rs4916251 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 3 | ||
rs213045 | 0.851 | 0.120 | 1 | 21290752 | intron variant | G/T | snv | 0.44 | 5 | ||
rs212528 | 0.925 | 0.040 | 1 | 21259168 | intron variant | T/C | snv | 0.12 | 3 | ||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs5351 | 0.807 | 0.240 | 13 | 77901178 | synonymous variant | T/C;G | snv | 0.57 | 7 |