Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6746030 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 16 | |
rs324419 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 3 | ||
rs2653349 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 5 | ||
rs540825 | 6 | 154093311 | missense variant | A/C;T | snv | 2.8E-05; 0.81 | 1 | ||||
rs2070995 | 1.000 | 0.040 | 21 | 37714662 | synonymous variant | T/C | snv | 0.80 | 0.85 | 2 | |
rs1676486 | 0.851 | 0.120 | 1 | 102888582 | missense variant | A/G;T | snv | 0.80; 4.0E-06 | 7 | ||
rs1801253 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 34 | |
rs222747 | 0.827 | 0.240 | 17 | 3589906 | missense variant | C/A;G;T | snv | 0.72; 4.5E-06 | 8 | ||
rs6275 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 7 | |
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs7439366 | 0.752 | 0.320 | 4 | 69098620 | missense variant | T/C | snv | 0.56 | 0.57 | 16 | |
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs2073618 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 19 | |
rs208294 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 9 | ||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs1044397 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 7 | |
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs4633 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 25 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs8904 | 0.925 | 0.120 | 14 | 35402011 | 3 prime UTR variant | G/A;C;T | snv | 0.39; 4.0E-06 | 4 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 |