Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11574938 | 0.827 | 0.120 | 16 | 30474072 | missense variant | G/A;C | snv | 0.62 | 6 | ||
rs2228226 | 0.851 | 0.160 | 12 | 57472038 | missense variant | G/C | snv | 0.60 | 0.68 | 6 | |
rs2293152 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 10 | ||
rs272893 | 0.925 | 0.160 | 5 | 132327369 | missense variant | T/C;G | snv | 0.58; 4.0E-06 | 2 | ||
rs6622126 | 0.851 | 0.080 | X | 106956972 | missense variant | G/A | snv | 0.58 | 4 | ||
rs1801198 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 26 | ||
rs272879 | 0.882 | 0.040 | 5 | 132334853 | synonymous variant | C/A;G;T | snv | 4.0E-06; 0.57 | 4 | ||
rs12103 | 0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 | 3 | ||
rs3749172 | 1.000 | 0.040 | 2 | 240630832 | missense variant | A/C;T | snv | 0.56; 2.0E-05 | 1 | ||
rs2234161 | 0.827 | 0.120 | 1 | 2559766 | non coding transcript exon variant | C/T | snv | 4.1E-05; 0.55 | 0.58 | 5 | |
rs2248374 | 0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 | 4 | |
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs4343 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 14 | ||
rs1884444 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 34 | |
rs2294021 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 8 | ||
rs2305764 | 0.776 | 0.360 | 19 | 17203024 | non coding transcript exon variant | G/A | snv | 0.52 | 0.50 | 10 | |
rs1545620 | 0.827 | 0.080 | 19 | 17192965 | missense variant | T/A;G | snv | 1.3E-05; 0.52 | 6 | ||
rs1042058 | 1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 | 2 | |
rs352139 | 0.732 | 0.320 | 3 | 52224356 | intron variant | T/C | snv | 0.51 | 0.54 | 18 | |
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 | ||
rs280519 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 10 | ||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 |