Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1800888 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 23 | |
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs6903956 | 0.763 | 0.160 | 6 | 11774350 | intron variant | A/G | snv | 0.65 | 10 | ||
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs5049 | 1.000 | 0.040 | 1 | 230714337 | intron variant | C/T | snv | 0.16 | 3 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs762079672 | 0.882 | 0.040 | 1 | 230710211 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs553350297 | 0.882 | 0.040 | 3 | 148741588 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 4 | |
rs1800588 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 16 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs3761581 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 5 | ||
rs56204867 | 0.925 | 0.040 | X | 129656490 | upstream gene variant | A/G | snv | 0.11 | 3 | ||
rs755559514 | 0.925 | 0.040 | X | 129648648 | missense variant | T/C;G | snv | 1.2E-05; 6.1E-06 | 3 | ||
rs11544374 | 1.000 | 0.040 | 11 | 57237103 | 5 prime UTR variant | C/T | snv | 0.21 | 2 | ||
rs948847 | 1.000 | 0.040 | 11 | 57236870 | synonymous variant | G/A;T | snv | 0.59 | 2 | ||
rs9943582 | 0.807 | 0.120 | 11 | 57237593 | upstream gene variant | T/C | snv | 0.63 | 8 | ||
rs3135506 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 26 | ||
rs651821 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 17 | |
rs662799 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 33 |