Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs536714306 | 0.925 | 0.040 | 6 | 142419955 | missense variant | G/A | snv | 9.2E-05 | 2.8E-05 | 2 | |
rs1342913 | 0.851 | 0.040 | 1 | 190151895 | intron variant | G/A | snv | 0.61 | 4 | ||
rs1935881 | 0.882 | 0.080 | 1 | 190097256 | downstream gene variant | T/C | snv | 0.28 | 3 | ||
rs333 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 23 | ||
rs2569190 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 39 | ||
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs1333042 | 0.827 | 0.120 | 9 | 22103814 | intron variant | A/G | snv | 0.63 | 7 | ||
rs496892 | 0.827 | 0.160 | 9 | 22024352 | intron variant | C/T | snv | 0.40 | 6 | ||
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs1800972 | 0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 | 16 | ||
rs1799946 | 0.732 | 0.360 | 8 | 6877909 | 5 prime UTR variant | C/T | snv | 0.36 | 0.41 | 13 | |
rs142548867 | 0.925 | 0.040 | 3 | 128264663 | missense variant | C/T | snv | 1.8E-03 | 6.8E-04 | 2 | |
rs782383264 | 0.925 | 0.040 | 7 | 74051750 | missense variant | G/A | snv | 1.2E-05 | 2 | ||
rs1042229 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 7 | ||
rs2070746 | 0.882 | 0.040 | 19 | 51746449 | synonymous variant | G/T | snv | 0.34 | 0.30 | 3 | |
rs2070745 | 0.925 | 0.040 | 19 | 51746694 | missense variant | C/G;T | snv | 0.40; 1.2E-05 | 2 | ||
rs5030879 | 0.925 | 0.040 | 19 | 51746647 | synonymous variant | G/A | snv | 2.8E-02 | 9.5E-02 | 2 | |
rs5030880 | 0.925 | 0.040 | 19 | 51746427 | missense variant | T/A | snv | 0.13 | 0.12 | 2 | |
rs1537415 | 0.851 | 0.040 | 9 | 135637876 | intron variant | G/C | snv | 0.36 | 4 | ||
rs779229249 | 0.925 | 0.040 | 6 | 116807037 | missense variant | A/G | snv | 4.0E-06 | 2 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs763780 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 87 | |
rs6667202 | 0.882 | 0.120 | 1 | 206783747 | intron variant | C/A;T | snv | 4 | |||
rs61815643 | 0.925 | 0.040 | 1 | 206782771 | intron variant | G/A;T | snv | 2 |