Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs6441600 | 1.000 | 0.040 | 3 | 93956895 | intron variant | C/G | snv | 0.97 | 1 | ||
rs1613662 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 6 | |
rs1926447 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 10 | |
rs13146272 | 1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 | 2 | |
rs2036914 | 0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 | 4 | ||
rs2097055 | 0.925 | 0.040 | 18 | 49569117 | intron variant | T/C | snv | 0.55 | 2 | ||
rs6507931 | 0.882 | 0.080 | 18 | 49586638 | intron variant | C/T | snv | 0.52 | 3 | ||
rs13062355 | 1.000 | 0.040 | 3 | 93969667 | intron variant | G/A | snv | 0.46 | 1 | ||
rs1801394 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 101 | |
rs1799810 | 1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 | 2 | |
rs1131012 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 10 | ||
rs12953 | 0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 | 9 | ||
rs2289252 | 1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 | 2 | ||
rs3742264 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 17 | |
rs12634349 | 1.000 | 0.040 | 3 | 93882955 | intron variant | A/G | snv | 0.34 | 1 | ||
rs1799808 | 1.000 | 0.040 | 2 | 127418286 | upstream gene variant | C/T | snv | 0.33 | 1 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 169 | |
rs2066865 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 9 | ||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 92 | |
rs114209171 | 0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 | 1 | ||
rs2000813 | 0.763 | 0.200 | 18 | 49567494 | missense variant | C/A;T | snv | 4.0E-06; 0.27; 4.0E-06 | 0.23 | 8 | |
rs6048 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 1 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs5918 | 0.683 | 0.480 | 17 | 47283364 | missense variant | T/C | snv | 0.12 | 0.13 | 26 | |
rs2227721 | 0.925 | 0.080 | 17 | 28370430 | intron variant | C/A;T | snv | 0.12 | 2 |