Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs528732638 | 0.851 | 0.120 | 18 | 26940224 | intron variant | A/-;AA;AAA;AAAA | delins | 5 | |||
rs1176744 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 19 | |
rs242941 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 9 | ||
rs2522833 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 7 | |
rs2619522 | 0.827 | 0.080 | 6 | 15653418 | intron variant | A/C | snv | 0.26 | 6 | ||
rs7296288 | 0.851 | 0.080 | 12 | 49086185 | upstream gene variant | A/C | snv | 0.50 | 5 | ||
rs1043307 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 14 | |||
rs3093077 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 9 | |||
rs4713916 | 0.790 | 0.160 | 6 | 35702206 | intron variant | A/C;G;T | snv | 11 | |||
rs7305115 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 8 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs174697 | 0.851 | 0.080 | 22 | 19966309 | intron variant | A/G | snv | 0.88 | 5 | ||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs1801260 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 28 | ||
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs2075650 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 45 | |
rs2227631 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 13 | ||
rs2230912 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 16 | |
rs2253206 | 0.851 | 0.080 | 2 | 207527254 | intron variant | A/G | snv | 0.47 | 6 | ||
rs334558 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 20 | ||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs7997012 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 11 | ||
rs9296158 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 16 |