Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs976306779 | 0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 | 8 | ||
rs2835931 | 1.000 | 0.120 | 21 | 37749345 | intron variant | C/A;T | snv | 4 | |||
rs477145 | 1.000 | 0.120 | 21 | 31390097 | intron variant | C/A;T | snv | 4 | |||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1179251 | 0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 | 14 | ||
rs77709286 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 12 | ||
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs1052667 | 0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv | 6 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs11549465 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 55 | |
rs486907 | 0.667 | 0.360 | 1 | 182585422 | missense variant | C/T | snv | 0.31 | 0.28 | 32 | |
rs77191406 | 0.790 | 0.280 | 6 | 137881704 | 3 prime UTR variant | C/T | snv | 7.2E-04 | 12 | ||
rs2269772 | 0.925 | 0.080 | 17 | 50072022 | synonymous variant | C/T | snv | 0.17 | 0.19 | 6 | |
rs771386507 | 0.882 | 0.120 | 6 | 31355479 | missense variant | C/T | snv | 4.0E-06 | 6 | ||
rs767151455 | 0.925 | 0.080 | 17 | 39708379 | missense variant | C/T | snv | 8.0E-06 | 4 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs1553260624 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 14 | |||
rs931127 | 0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 | 12 | ||
rs115160714 | 0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 | 9 | ||
rs1458974438 | 0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv | 9 | |||
rs746429 | 0.882 | 0.120 | 11 | 65649963 | synonymous variant | G/A | snv | 0.31 | 0.30 | 8 |