Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs562010289 | 0.925 | 0.120 | 1 | 183227583 | missense variant | G/A;C | snv | 1.7E-04 | 2 | ||
rs1719152 | 1.000 | 0.080 | 17 | 36105271 | missense variant | T/A | snv | 0.21 | 0.18 | 1 | |
rs79448530 | 1.000 | 0.080 | 11 | 4577726 | non coding transcript exon variant | C/G;T | snv | 4.0E-06; 3.7E-02 | 1 | ||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs4818 | 0.683 | 0.440 | 22 | 19963684 | synonymous variant | C/G;T | snv | 0.34 | 27 | ||
rs4633 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 23 | |
rs1383914 | 1.000 | 0.080 | 8 | 26865532 | 5 prime UTR variant | T/C | snv | 0.47 | 1 | ||
rs6860 | 1.000 | 0.080 | 16 | 89644712 | 3 prime UTR variant | C/T | snv | 0.32 | 1 | ||
rs841 | 0.827 | 0.200 | 14 | 54843774 | splice region variant | G/A | snv | 0.22 | 0.22 | 7 | |
rs1126858 | 1.000 | 0.080 | 4 | 76021932 | stop lost | A/G | snv | 2.9E-04 | 2.4E-04 | 1 | |
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs1800541 | 0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 | 5 |