Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs876658517 | 1.000 | 0.120 | 11 | 108327735 | missense variant | A/G;T | snv | 1 | |||
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 38 | ||
rs1805105 | 0.776 | 0.280 | 16 | 346264 | synonymous variant | A/G | snv | 0.61 | 0.69 | 11 | |
rs12921862 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 10 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs1982809 | 0.882 | 0.200 | 3 | 112463893 | downstream gene variant | A/G | snv | 0.28 | 3 | ||
rs1049334 | 0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv | 6 | |||
rs706209 | 1.000 | 0.120 | 21 | 43053315 | 3 prime UTR variant | G/A | snv | 1 | |||
rs750380279 | 0.851 | 0.200 | 5 | 218357 | start lost | T/A;C;G | snv | 8.7E-06; 8.7E-06 | 6 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs2050462 | 0.925 | 0.120 | 1 | 109930334 | 3 prime UTR variant | T/A;G | snv | 2 | |||
rs333951 | 0.925 | 0.120 | 1 | 109909068 | upstream gene variant | T/C | snv | 0.74 | 2 | ||
rs763059810 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 41 | ||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs2504106 | 0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 | 2 | ||
rs6937133 | 0.925 | 0.120 | 6 | 39832238 | intron variant | A/C;G | snv | 2 | |||
rs2267437 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 19 | |||
rs132770 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 14 | ||
rs17037102 | 0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 | 6 | ||
rs3206824 | 0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 | 6 | |
rs2291599 | 0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 | 2 | |
rs7396187 | 0.925 | 0.120 | 11 | 11967604 | intron variant | C/G | snv | 0.84 | 2 | ||
rs11708581 | 0.827 | 0.160 | 3 | 52394972 | synonymous variant | C/A | snv | 8.3E-02 | 7.7E-02 | 5 |