Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs776746 | 0.724 | 0.400 | 7 | 99672916 | splice acceptor variant | T/C | snv | 0.72 | 21 | ||
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs6931104 | 1.000 | 0.080 | 6 | 151465042 | intron variant | G/A | snv | 0.54 | 1 | ||
rs111340708 | 0.925 | 0.080 | 12 | 111447548 | intron variant | TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG | delins | 0.52 | 2 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs4795519 | 1.000 | 0.080 | 17 | 27214252 | intergenic variant | A/C | snv | 0.43 | 1 | ||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs9610915 | 1.000 | 0.080 | 22 | 38215073 | 3 prime UTR variant | C/G | snv | 0.48 | 0.41 | 1 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1801018 | 0.851 | 0.240 | 18 | 63318646 | synonymous variant | T/C | snv | 0.37 | 0.32 | 6 | |
rs2043211 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 29 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs6503691 | 0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 | 5 | ||
rs12343867 | 0.790 | 0.200 | 9 | 5074189 | intron variant | T/C | snv | 0.25 | 9 | ||
rs636832 | 0.790 | 0.400 | 1 | 35897874 | intron variant | G/A | snv | 0.23 | 8 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs2273697 | 0.776 | 0.360 | 10 | 99804058 | missense variant | G/A | snv | 0.19 | 0.19 | 11 | |
rs717620 | 0.763 | 0.240 | 10 | 99782821 | 5 prime UTR variant | C/T | snv | 0.17 | 0.15 | 10 | |
rs1799782 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 151 | |
rs61764370 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 29 | ||
rs45511401 | 0.851 | 0.120 | 16 | 16079375 | missense variant | G/T | snv | 3.8E-02 | 3.6E-02 | 4 | |
rs3092856 | 0.882 | 0.120 | 11 | 108289005 | missense variant | C/T | snv | 1.2E-02 | 2.2E-02 | 3 | |
rs4148356 | 0.851 | 0.120 | 16 | 16083418 | missense variant | G/A | snv | 2.3E-02 | 1.3E-02 | 4 | |
rs34549764 | 1.000 | 0.080 | 9 | 130862953 | missense variant | A/G | snv | 2.6E-03 | 2.5E-03 | 1 |