Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800925 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 37 | |||
rs204989 | 0.925 | 0.120 | 6 | 32194075 | intron variant | G/A | snv | 0.21 | 2 | ||
rs204991 | 0.882 | 0.200 | 6 | 32193589 | intron variant | T/C | snv | 0.21 | 3 | ||
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs2165667 | 0.925 | 0.040 | 4 | 186540475 | intron variant | A/G;T | snv | 2 | |||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs2230926 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 27 | ||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs224222 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 15 | |
rs2248098 | 0.925 | 0.120 | 12 | 47859573 | intron variant | A/G;T | snv | 4 | |||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs2670660 | 0.708 | 0.400 | 17 | 5615686 | intron variant | A/G | snv | 0.41 | 15 | ||
rs28936375 | 0.752 | 0.320 | 1 | 53197092 | missense variant | C/A | snv | 1.7E-04 | 2.2E-04 | 15 | |
rs28940580 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 17 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs3024498 | 0.790 | 0.360 | 1 | 206768184 | 3 prime UTR variant | T/C | snv | 0.20 | 7 | ||
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs3743930 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 43 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3789604 | 0.776 | 0.360 | 1 | 113812320 | synonymous variant | T/A;C;G | snv | 8.5E-06; 1.3E-05; 0.17 | 9 | ||
rs3890733 | 0.882 | 0.120 | 12 | 47895590 | intron variant | C/T | snv | 0.27 | 3 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4760648 | 0.851 | 0.200 | 12 | 47886882 | intron variant | C/A;G;T | snv | 4 |