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 | 13 | |
rs3134943 | 0.882 | 0.240 | 6 | 32179984 | intron variant | T/A;C | snv | 0.89 | 3 | ||
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 3 | ||
rs3129888 | 0.882 | 0.240 | 6 | 32443949 | intron variant | G/A | snv | 0.82 | 0.80 | 3 | |
rs2051600 | 1.000 | 0.120 | 6 | 32741532 | splice region variant | A/G | snv | 0.81 | 0.81 | 1 | |
rs3129941 | 0.882 | 0.240 | 6 | 32369909 | missense variant | A/G;T | snv | 0.81 | 3 | ||
rs3129928 | 1.000 | 0.120 | 6 | 32366464 | intron variant | G/A;T | snv | 0.81 | 1 | ||
rs3130617 | 0.925 | 0.200 | 6 | 31659746 | missense variant | C/T | snv | 0.79 | 0.74 | 2 | |
rs2272593 | 1.000 | 0.120 | 6 | 31633567 | missense variant | T/C | snv | 0.79 | 0.74 | 1 | |
rs1046080 | 1.000 | 0.120 | 6 | 31628105 | missense variant | C/A | snv | 0.79 | 0.74 | 1 | |
rs1042337 | 1.000 | 0.120 | 6 | 32937204 | missense variant | G/A | snv | 0.78 | 0.80 | 1 | |
rs6962756 | 1.000 | 0.120 | 7 | 123616373 | missense variant | C/T | snv | 0.77 | 0.78 | 1 | |
rs535586 | 0.882 | 0.160 | 6 | 31892560 | splice region variant | T/A;C | snv | 0.77 | 3 | ||
rs486416 | 0.925 | 0.160 | 6 | 31888293 | intron variant | G/A | snv | 0.77 | 0.76 | 2 | |
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 | |
rs419788 | 1.000 | 0.120 | 6 | 31961022 | intron variant | T/A;C | snv | 0.76 | 1 | ||
rs7767581 | 1.000 | 0.120 | 6 | 31272078 | 5 prime UTR variant | C/G;T | snv | 0.73 | 1 | ||
rs9264636 | 1.000 | 0.120 | 6 | 31270520 | intron variant | C/T | snv | 0.73 | 1.2E-02 | 1 | |
rs4713654 | 1.000 | 0.120 | 6 | 33679874 | splice region variant | A/G;T | snv | 0.72; 4.1E-06 | 1 | ||
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 1 | |
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 1 | |
rs3125734 | 1.000 | 0.120 | 10 | 62198353 | missense variant | T/C;G | snv | 0.65; 1.2E-05 | 1 | ||
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 2 | ||
rs7192 | 0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 | 3 |