Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs361525 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 62 | ||
rs2066844 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 54 | |
rs1799724 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 47 | ||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs2066845 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 46 | ||
rs744166 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 22 | ||
rs2201841 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 14 | |||
rs30187 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 14 | ||
rs6887695 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 14 | ||
rs7530511 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 12 | ||
rs12188300 | 0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv | 6 | |||
rs4921482 | 0.807 | 0.120 | 5 | 159337470 | intron variant | T/C;G | snv | 6 | |||
rs74817271 | 0.807 | 0.120 | 5 | 151090412 | intron variant | G/A | snv | 5.0E-02 | 6 | ||
rs10865331 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 5 | ||
rs2248374 | 0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 | 4 | |
rs2631367 | 0.925 | 0.120 | 5 | 132369766 | 5 prime UTR variant | C/G | snv | 0.59 | 4 |