Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs116791765 | 1.000 | 0.080 | 11 | 94347083 | intergenic variant | T/G | snv | 2.3E-02 | 1 | ||
rs4517 | 1.000 | 0.080 | 7 | 93886681 | 3 prime UTR variant | T/A;G | snv | 1 | |||
rs148024591 | 1.000 | 0.080 | 15 | 93371222 | intron variant | C/T | snv | 2.8E-02 | 1 | ||
rs4299396 | 1.000 | 0.080 | 20 | 8934668 | intron variant | A/T | snv | 0.30 | 1 | ||
rs4673 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 32 | ||
rs1554699491 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 23 | |||
rs780631499 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 23 | |
rs2743173 | 1.000 | 0.080 | 20 | 8264646 | intron variant | T/A;C;G | snv | 1 | |||
rs1056629 | 0.827 | 0.120 | 16 | 82148499 | 3 prime UTR variant | T/C | snv | 0.14 | 6 | ||
rs1054135 | 0.851 | 0.240 | 8 | 81478525 | 3 prime UTR variant | C/T | snv | 0.17 | 5 | ||
rs35329661 | 1.000 | 0.080 | 11 | 75263946 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 1 | ||
rs5435 | 0.851 | 0.200 | 17 | 7283804 | missense variant | T/A;C | snv | 0.65 | 6 | ||
rs5417 | 1.000 | 0.080 | 17 | 7281743 | 5 prime UTR variant | C/A;T | snv | 2 | |||
rs1409986 | 1.000 | 0.080 | 1 | 70865815 | missense variant | A/G | snv | 0.94 | 0.94 | 2 | |
rs1563183492 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 32 | |||
rs104894578 | 0.807 | 0.280 | 17 | 70175691 | missense variant | C/T | snv | 6 | |||
rs11126184 | 0.925 | 0.080 | 2 | 68425042 | intergenic variant | C/A | snv | 0.55 | 2 | ||
rs1805094 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 16 | ||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs3790435 | 1.000 | 0.080 | 1 | 65420715 | 5 prime UTR variant | T/A;C;G | snv | 0.51 | 1 | ||
rs999944 | 1.000 | 0.080 | 2 | 64822719 | intergenic variant | A/G | snv | 0.83 | 1 | ||
rs78897171 | 1.000 | 0.080 | 20 | 61868195 | intron variant | G/A | snv | 4.8E-02 | 1 | ||
rs1063856 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 14 | ||
rs841 | 0.827 | 0.200 | 14 | 54843774 | splice region variant | G/A | snv | 0.22 | 0.22 | 8 |