Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 16 | |||
rs11556924 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 13 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 7 | ||
rs11591147 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 6 | ||
rs1378942 | 0.790 | 0.240 | 15 | 74785026 | intron variant | C/A;T | snv | 6 | |||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 6 | ||
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 6 | |||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 5 | |||
rs445925 | 0.882 | 0.080 | 19 | 44912383 | non coding transcript exon variant | G/A;C | snv | 5 | |||
rs2075291 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 4 | ||
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 3 | ||
rs1878406 | 0.807 | 0.200 | 4 | 147472512 | intergenic variant | C/A;G;T | snv | 3 | |||
rs3135506 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 3 | ||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 2 | |||
rs28362286 | 0.851 | 0.080 | 1 | 55063542 | stop gained | C/A;T | snv | 5.6E-04 | 2 | ||
rs67608943 | 0.851 | 0.080 | 1 | 55046549 | stop gained | C/G;T | snv | 1.9E-04 | 2 | ||
rs974819 | 0.807 | 0.080 | 11 | 103789839 | intron variant | T/A;C | snv | 2 | |||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 1 | |||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 1 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 1 | ||
rs2106261 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 1 | |||
rs2229238 | 0.851 | 0.080 | 1 | 154465420 | 3 prime UTR variant | T/A;C | snv | 0.80 | 1 | ||
rs3091244 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 1 | |||
rs3939286 | 0.776 | 0.360 | 9 | 6210099 | regulatory region variant | T/A;C | snv | 1 | |||
rs4712972 | 0.882 | 0.160 | 6 | 25771819 | intron variant | A/C;G | snv | 1 |