Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10045431 | 0.851 | 0.240 | 5 | 159387525 | intron variant | A/C | snv | 0.78 | 3 | ||
rs11167764 | 0.925 | 0.120 | 5 | 142099500 | regulatory region variant | A/C | snv | 0.80 | 2 | ||
rs11747270 | 0.790 | 0.240 | 5 | 150879305 | intron variant | A/G | snv | 0.21 | 3 | ||
rs13003464 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 7 | ||
rs1893217 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 8 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 13 | |
rs3764147 | 0.807 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 | 4 | |
rs3828309 | 0.882 | 0.160 | 2 | 233271764 | intron variant | A/G | snv | 0.42 | 3 | ||
rs4263839 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 3 | ||
rs744166 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 3 | ||
rs9286879 | 0.851 | 0.200 | 1 | 172893094 | intron variant | A/G | snv | 0.32 | 4 | ||
rs2066847 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 2 | ||
rs540973741 | 0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 2 | |||
rs5743293 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 2 | |||
rs1847472 | 0.807 | 0.200 | 6 | 90263440 | intron variant | C/A | snv | 0.25 | 3 | ||
rs10758669 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 5 | |||
rs224136 | 0.925 | 0.120 | 10 | 62710915 | intron variant | C/A;T | snv | 0.34 | 2 | ||
rs11175593 | 0.882 | 0.160 | 12 | 40208138 | non coding transcript exon variant | C/T | snv | 2.8E-02 | 3 | ||
rs2188962 | 0.882 | 0.160 | 5 | 132435113 | intron variant | C/T | snv | 0.29 | 4 | ||
rs2301436 | 0.752 | 0.320 | 6 | 167024500 | intron variant | C/T | snv | 0.42 | 4 | ||
rs7927894 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 5 | ||
rs8005161 | 0.882 | 0.120 | 14 | 88006251 | intron variant | C/T | snv | 0.18 | 3 | ||
rs1456893 | 0.851 | 0.160 | 7 | 50230076 | intron variant | G/A | snv | 0.69 | 3 | ||
rs1551398 | 0.882 | 0.160 | 8 | 125527809 | intron variant | G/A | snv | 0.48 | 3 | ||
rs3197999 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 6 |