Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs429699 | 0.925 | 0.080 | 5 | 1409012 | intron variant | T/C | snv | 0.96 | 0.98 | 3 | |
rs3130253 | 0.925 | 0.120 | 6 | 29666235 | missense variant | A/G;T | snv | 0.95; 4.1E-06 | 3 | ||
rs2302685 | 0.827 | 0.240 | 12 | 12148964 | missense variant | C/T | snv | 0.85 | 0.84 | 5 | |
rs550818 | 1.000 | 0.040 | 17 | 29574957 | missense variant | A/G | snv | 0.75 | 0.76 | 1 | |
rs734644 | 1.000 | 0.040 | 4 | 61935010 | missense variant | T/A;C | snv | 0.69 | 1 | ||
rs6323 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 7 | ||
rs6283 | 0.882 | 0.120 | 4 | 9783007 | synonymous variant | C/T | snv | 0.64 | 0.64 | 4 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs2303380 | 1.000 | 0.040 | 11 | 113329987 | splice region variant | G/A | snv | 0.61 | 0.64 | 2 | |
rs1051266 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 41 | ||
rs5751876 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 16 | |
rs2228607 | 0.925 | 0.160 | 7 | 73708593 | synonymous variant | A/G | snv | 0.51 | 0.53 | 2 | |
rs6332 | 0.851 | 0.080 | 12 | 5494466 | synonymous variant | G/A;T | snv | 0.49; 3.2E-05 | 4 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1108580 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 9 | |
rs2236225 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 52 | |
rs324981 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 18 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs4818 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 27 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs5569 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 19 | ||
rs6296 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 23 | |
rs460000 | 1.000 | 0.040 | 5 | 1432710 | intron variant | G/A;C;T | snv | 1.6E-05; 0.31 | 1 | ||
rs595961 | 0.807 | 0.160 | 1 | 35902179 | intron variant | A/G | snv | 0.30 | 0.37 | 6 | |
rs3733890 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 16 |