Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1152888 | 1.000 | 0.080 | 12 | 66211448 | missense variant | A/C;G | snv | 4.0E-06; 0.87 | 1 | ||
rs3210908 | 1.000 | 0.080 | 11 | 406483 | missense variant | T/A;C | snv | 0.84 | 1 | ||
rs1061501 | 0.851 | 0.200 | 11 | 614864 | synonymous variant | C/T | snv | 0.83 | 0.85 | 4 | |
rs887369 | 1.000 | 0.080 | X | 30559729 | synonymous variant | A/C;T | snv | 0.82; 3.3E-05 | 1 | ||
rs2255336 | 0.827 | 0.200 | 12 | 10379727 | missense variant | T/C | snv | 0.81 | 0.74 | 5 | |
rs630379 | 0.882 | 0.200 | 6 | 31954477 | intron variant | A/C | snv | 0.77 | 0.79 | 3 | |
rs535586 | 0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 | 3 | ||
rs659445 | 0.882 | 0.160 | 6 | 31896527 | intron variant | G/A;C | snv | 0.77 | 0.76 | 3 | |
rs437179 | 0.882 | 0.160 | 6 | 31961237 | missense variant | A/C | snv | 0.76 | 0.78 | 3 | |
rs4246905 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 16 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs708035 | 0.925 | 0.120 | 3 | 10234479 | missense variant | T/A | snv | 0.73 | 0.70 | 2 | |
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs1059702 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 7 | ||
rs428073 | 1.000 | 0.080 | 12 | 118244946 | missense variant | C/G;T | snv | 0.72 | 3 | ||
rs2480256 | 1.000 | 0.080 | 10 | 133539010 | 3 prime UTR variant | A/G;T | snv | 0.71 | 1 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 12 | |
rs3803800 | 0.807 | 0.240 | 17 | 7559652 | missense variant | A/G | snv | 0.70 | 0.64 | 7 | |
rs2243188 | 0.851 | 0.200 | 1 | 206841127 | intron variant | A/C;T | snv | 0.69 | 4 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs3747517 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 13 |