Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10068737 | 5 | 118700852 | intergenic variant | T/A;C | snv | 1 | |||||
rs10109414 | 1.000 | 0.080 | 8 | 23893638 | regulatory region variant | C/T | snv | 0.37 | 1 | ||
rs12575381 | 11 | 135033566 | regulatory region variant | G/A | snv | 0.16 | 1 | ||||
rs16864170 | 1.000 | 0.080 | 2 | 5767748 | intergenic variant | T/C | snv | 3.8E-02 | 1 | ||
rs1933182 | 1.000 | 0.080 | 1 | 109457216 | intergenic variant | A/C | snv | 0.63 | 1 | ||
rs2453533 | 1.000 | 0.080 | 15 | 45349027 | intergenic variant | C/A | snv | 0.56 | 1 | ||
rs267734 | 0.925 | 0.120 | 1 | 150979001 | upstream gene variant | T/C | snv | 0.14 | 1 | ||
rs2880072 | 6 | 159404417 | downstream gene variant | G/A | snv | 0.49 | 1 | ||||
rs2887915 | 2 | 210689850 | intergenic variant | C/G;T | snv | 1 | |||||
rs500456 | 7 | 54531089 | intergenic variant | A/G | snv | 0.47 | 1 | ||||
rs6465825 | 1.000 | 0.080 | 7 | 77787122 | downstream gene variant | T/C | snv | 0.41 | 1 | ||
rs3764913 | 1.000 | 0.080 | 2 | 210210185 | non coding transcript exon variant | T/C | snv | 0.30 | 0.27 | 1 | |
rs2014355 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 1 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 1 | |
rs6546837 | 2 | 73450771 | missense variant | G/C;T | snv | 0.27 | 1 | ||||
rs6929846 | 0.827 | 0.160 | 6 | 26458037 | 5 prime UTR variant | T/C | snv | 0.70 | 1 | ||
rs1500896 | 8 | 95474454 | intron variant | G/A;C | snv | 1 | |||||
rs7784820 | 7 | 80420717 | intron variant | A/G | snv | 0.16 | 1 | ||||
rs3093058 | 1 | 159715525 | upstream gene variant | T/A;C;G | snv | 1 | |||||
rs911119 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 1 | |||
rs11959928 | 1.000 | 0.080 | 5 | 39397030 | intron variant | T/A | snv | 0.39 | 1 | ||
rs626277 | 1.000 | 0.080 | 13 | 71773564 | intron variant | A/C | snv | 0.51 | 1 | ||
rs12124078 | 1 | 15543404 | intron variant | A/G | snv | 0.32 | 1 | ||||
rs4555246 | 18 | 69609486 | intron variant | G/A;T | snv | 1 | |||||
rs571461077 | 18 | 69609487 | intron variant | ATAAATAA/-;ATAA;ATAAATAAATAA;ATAAATAAATAAATAA;ATAAATAAATAAATAAATAA;ATAAATAAATAAATAAATAAATAA | delins | 1 |