Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs165599 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 27 | ||
rs4633 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 25 | |
rs1801028 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 24 | |
rs1805054 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 17 | |
rs2146323 | 0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 | 13 | ||
rs12807809 | 0.882 | 0.160 | 11 | 124736389 | upstream gene variant | T/C | snv | 0.20 | 4 | ||
rs387906639 | 0.925 | 0.120 | 5 | 140674776 | missense variant | T/G | snv | 2.0E-05 | 9.1E-05 | 4 | |
rs2396753 | 0.925 | 0.160 | 7 | 114508276 | intron variant | C/A;G | snv | 3 | |||
rs3751082 | 0.925 | 0.160 | 11 | 68027885 | synonymous variant | G/A | snv | 0.21 | 0.19 | 2 | |
rs474559 | 1.000 | 0.120 | 9 | 32614094 | regulatory region variant | G/A | snv | 1.1E-02 | 1 | ||
rs1426891 | 1.000 | 0.120 | 15 | 26472746 | intron variant | G/A | snv | 0.29 | 1 | ||
rs2912602 | 1.000 | 0.120 | 15 | 26474092 | intron variant | G/A | snv | 0.16 | 1 | ||
rs2912600 | 1.000 | 0.120 | 15 | 26475396 | intron variant | A/G | snv | 0.28 | 1 |