Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1044396 | 0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 | 17 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs1611131 | 0.925 | 0.080 | 9 | 133657065 | splice region variant | A/G | snv | 0.28; 4.0E-06 | 0.25 | 3 | |
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs7118900 | 11 | 113396099 | missense variant | G/A | snv | 0.25 | 0.25 | 1 | |||
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs1049353 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 42 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1803274 | 0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 | 13 | |
rs963549 | 8 | 53229264 | synonymous variant | C/T | snv | 0.17 | 0.24 | 1 | |||
rs702764 | 0.925 | 0.120 | 8 | 53229597 | synonymous variant | T/C;G | snv | 0.17; 8.0E-06 | 4 | ||
rs3025684 | 1.000 | 0.120 | 16 | 3745362 | splice region variant | G/A | snv | 7.7E-02 | 0.15 | 2 | |
rs16918875 | 8 | 53229594 | synonymous variant | G/A | snv | 4.3E-02 | 7.1E-02 | 1 | |||
rs769540300 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 8 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs751416416 | 0.882 | 0.120 | 8 | 53250920 | missense variant | C/A;T | snv | 8.3E-06; 4.1E-06 | 5 | ||
rs774847933 | 0.882 | 0.200 | 22 | 19962797 | missense variant | A/G | snv | 8.0E-06 | 5 | ||
rs764987358 | 1.000 | 0.160 | 8 | 107347040 | missense variant | C/A | snv | 8.0E-06 | 1.4E-05 | 2 | |
rs772527880 | 2 | 227531108 | missense variant | G/A | snv | 4.0E-06 | 1 | ||||
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 | |||
rs1333048 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 24 | ||
rs2023239 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 20 |