Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs6314 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 23 | |
rs7997012 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 11 | ||
rs1006737 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 27 | ||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs120074175 | 0.827 | 0.080 | 12 | 72031544 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 7 | |
rs1545843 | 0.827 | 0.120 | 12 | 84170289 | intron variant | G/A | snv | 0.52 | 6 | ||
rs2230912 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 16 | |
rs2287161 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 7 | |||
rs5443 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 106 | |
rs7296288 | 0.851 | 0.080 | 12 | 49086185 | upstream gene variant | A/C | snv | 0.50 | 5 | ||
rs7305115 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 8 | ||
rs794727961 | 0.851 | 0.080 | 12 | 2512979 | missense variant | G/A | snv | 5 | |||
rs11030101 | 0.763 | 0.160 | 11 | 27659197 | 5 prime UTR variant | A/T | snv | 0.36 | 10 | ||
rs1176744 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 19 | |
rs1415125856 | 0.827 | 0.120 | 11 | 27658550 | splice region variant | G/A | snv | 4.0E-06 | 2.1E-05 | 7 | |
rs1488864 | 0.851 | 0.080 | 11 | 6321099 | intron variant | T/G | snv | 0.80 | 4 | ||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs1800532 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 15 | ||
rs61888800 | 0.851 | 0.080 | 11 | 27700731 | 5 prime UTR variant | G/T | snv | 0.19 | 5 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs1106634 | 0.851 | 0.080 | 8 | 20208538 | intron variant | G/A;C;T | snv | 0.18 | 5 | ||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 |