Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2227947 | 0.925 | 0.120 | 5 | 113064094 | missense variant | G/A;T | snv | 0.61 | 0.50 | 2 | |
rs2227948 | 0.925 | 0.120 | 5 | 113043592 | synonymous variant | G/A;T | snv | 0.53; 4.0E-06 | 2 | ||
rs1549637 | 0.925 | 0.120 | 19 | 48048700 | intron variant | A/T | snv | 0.72 | 3 | ||
rs9944880 | 0.882 | 0.120 | 18 | 53125996 | intron variant | G/A | snv | 5.3E-02 | 3 | ||
rs4848306 | 0.851 | 0.120 | 2 | 112840530 | non coding transcript exon variant | G/A | snv | 0.39 | 6 | ||
rs368705607 | 0.882 | 0.120 | 1 | 226225766 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 | 7 | ||
rs3116496 | 0.776 | 0.160 | 2 | 203729789 | intron variant | T/C | snv | 0.15 | 0.14 | 11 | |
rs3813867 | 0.732 | 0.240 | 10 | 133526101 | intron variant | G/A;C | snv | 13 | |||
rs419598 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 13 | |
rs2229080 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 16 | ||
rs115707823 | 0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv | 19 | |||
rs334558 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 20 | ||
rs9651118 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 20 | ||
rs1799990 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 23 | |
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs4950928 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 33 | |||
rs7799039 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 33 | |||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs1258159645 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 37 | ||
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 |