Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1048101 | 0.882 | 0.120 | 8 | 26770511 | missense variant | A/G | snv | 0.52 | 0.56 | 5 | |
rs1383914 | 1.000 | 0.080 | 8 | 26865532 | 5 prime UTR variant | T/C | snv | 0.47 | 1 | ||
rs1126858 | 1.000 | 0.080 | 4 | 76021932 | stop lost | A/G | snv | 2.9E-04 | 2.4E-04 | 1 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs12273539 | 0.925 | 0.120 | 11 | 27661764 | intron variant | C/T | snv | 0.12 | 2 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 264 | |
rs11030104 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 8 | ||
rs79448530 | 1.000 | 0.080 | 11 | 4577726 | non coding transcript exon variant | C/G;T | snv | 4.0E-06; 3.7E-02 | 1 | ||
rs1129844 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 13 | ||
rs6860 | 1.000 | 0.080 | 16 | 89644712 | 3 prime UTR variant | C/T | snv | 0.32 | 1 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
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 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs1800541 | 0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 | 5 | ||
rs841 | 0.827 | 0.200 | 14 | 54843774 | splice region variant | G/A | snv | 0.22 | 0.22 | 7 | |
rs1043210477 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 19 | |||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs75634836 | 0.807 | 0.160 | 13 | 46835532 | missense variant | C/A;T | snv | 4.0E-06 | 11 | ||
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 | |
rs224222 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 15 | |
rs2097903 | 1.000 | 0.080 | 7 | 10642782 | intron variant | A/T | snv | 0.51 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 |