Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587776636 | 1.000 | 0.120 | 1 | 85267930 | frameshift variant | -/A | delins | 1 | |||
rs587776633 | 1.000 | 0.120 | 1 | 85270732 | frameshift variant | -/T | delins | 1 | |||
rs587776632 | 0.925 | 0.120 | 1 | 85267901 | frameshift variant | A/-;AAA | delins | 2 | |||
rs144848 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 29 | |
rs3763313 | 0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 | 7 | ||
rs6457327 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 7 | ||
rs2855429 | 0.925 | 0.120 | 6 | 33190412 | intron variant | A/C | snv | 0.78 | 2 | ||
rs587781386 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 3 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2682818 | 0.742 | 0.320 | 12 | 80935757 | non coding transcript exon variant | A/C;T | snv | 0.83 | 14 | ||
rs28530648 | 1.000 | 0.120 | 6 | 32559302 | intron variant | A/C;T | snv | 1 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs2308321 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 29 | |
rs9808753 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 17 | |
rs172378 | 0.790 | 0.240 | 1 | 22638945 | synonymous variant | A/G | snv | 0.49 | 0.51 | 11 | |
rs2308327 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 10 | |
rs6932542 | 0.827 | 0.200 | 6 | 32412485 | downstream gene variant | A/G | snv | 0.55 | 5 | ||
rs8094402 | 0.882 | 0.120 | 18 | 76995493 | intron variant | A/G | snv | 0.25 | 3 | ||
rs3789068 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 2 | ||
rs9275517 | 0.925 | 0.200 | 6 | 32706872 | non coding transcript exon variant | A/G | snv | 0.58 | 2 | ||
rs28605404 | 1.000 | 0.120 | 6 | 32601910 | intergenic variant | A/G | snv | 0.10 | 1 |