Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 34 | |
rs1728785 | 0.925 | 0.120 | 16 | 68557327 | intron variant | A/C;T | snv | 0.77; 7.8E-06 | 1 | ||
rs4246905 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 15 | ||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 7 | |
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 1 | |
rs3747517 | 0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 | 5 | |
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 61 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 55 | |
rs469758 | 0.827 | 0.120 | 5 | 96786011 | intron variant | C/T | snv | 0.62 | 0.63 | 5 | |
rs11574938 | 0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 | 6 | ||
rs2293152 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 1 | ||
rs5771069 | 0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 | 1 | |
rs12103 | 0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 | 3 | ||
rs2234161 | 0.827 | 0.120 | 1 | 2559766 | non coding transcript exon variant | C/T | snv | 4.1E-05; 0.55 | 0.58 | 5 | |
rs1052571 | 0.882 | 0.080 | 1 | 15524118 | missense variant | G/A | snv | 0.50 | 0.59 | 1 | |
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 1 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 1 | ||
rs281377 | 0.925 | 0.120 | 19 | 48703346 | synonymous variant | C/T | snv | 0.49 | 0.42 | 1 | |
rs3740415 | 1.000 | 0.040 | 10 | 102472959 | 3 prime UTR variant | G/A | snv | 0.48 | 0.48 | 1 | |
rs1801274 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 7 | ||
rs721917 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 1 | |
rs2241880 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 1 | |
rs1250569 | 0.925 | 0.040 | 10 | 79285450 | intron variant | T/C | snv | 0.44 | 0.51 | 1 | |
rs12928404 | 0.724 | 0.240 | 16 | 28835925 | splice region variant | T/C | snv | 0.44 | 0.45 | 15 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 2 |