Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1220000453 | 0.882 | 0.120 | 11 | 58624189 | synonymous variant | C/T | snv | 5 | |||
rs10434 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 17 | ||
rs12137417 | 0.925 | 0.080 | 1 | 231950407 | intron variant | G/A | snv | 0.17 | 3 | ||
rs2793094 | 0.925 | 0.080 | 1 | 231741236 | intron variant | G/A | snv | 0.97 | 3 | ||
rs7305115 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 8 | ||
rs120074175 | 0.827 | 0.080 | 12 | 72031544 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 7 | |
rs78162420 | 0.882 | 0.120 | 12 | 71941600 | missense variant | C/A | snv | 2.1E-03 | 7.1E-04 | 4 | |
rs12229394 | 0.925 | 0.080 | 12 | 71999134 | intron variant | G/A | snv | 0.29 | 3 | ||
rs1800532 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 15 | ||
rs1173546708 | 0.851 | 0.120 | 11 | 18040661 | synonymous variant | G/A | snv | 4.0E-06 | 5 | ||
rs1799913 | 0.851 | 0.080 | 11 | 18025708 | splice region variant | G/A;T | snv | 0.39 | 0.33 | 5 | |
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 45 | |
rs1061622 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 33 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs10514299 | 0.827 | 0.120 | 5 | 88367793 | intron variant | C/T | snv | 0.21 | 6 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs2291738 | 0.807 | 0.160 | 12 | 56421497 | splice region variant | T/C | snv | 0.43 | 0.39 | 8 | |
rs2291739 | 0.925 | 0.080 | 12 | 56420869 | missense variant | G/A;C | snv | 0.49; 4.0E-06 | 6 | ||
rs7486220 | 0.925 | 0.080 | 12 | 56443632 | intron variant | C/T | snv | 3 | |||
rs1003880422 | 0.925 | 0.080 | 11 | 2166716 | missense variant | G/A;T | snv | 6.9E-06 | 2 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs738499 | 0.851 | 0.120 | 22 | 41381096 | intron variant | G/T | snv | 0.76 | 9 | ||
rs1325757098 | 0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 6 | |
rs8192625 | 0.925 | 0.080 | 6 | 132571193 | missense variant | G/A | snv | 6.2E-02 | 7.8E-02 | 3 | |
rs397514679 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 9 |