Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
rs1553403917 | 0.807 | 0.320 | 2 | 73451171 | frameshift variant | -/A | delins | 7 | |||
rs2645424 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 5 | ||
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 99 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs12980275 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 23 | ||
rs6834314 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 10 | ||
rs2294918 | 0.925 | 0.040 | 22 | 43946236 | missense variant | A/G | snv | 0.68 | 0.70 | 3 | |
rs3865188 | 0.790 | 0.320 | 16 | 82617112 | intergenic variant | A/G;T | snv | 10 | |||
rs1057972 | 0.790 | 0.200 | 4 | 141733279 | 3 prime UTR variant | A/T | snv | 0.54 | 7 | ||
rs1251713297 | 0.776 | 0.360 | 16 | 68355785 | stop gained | C/A | snv | 8.1E-06 | 15 | ||
rs12743824 | 0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 | 2 | ||
rs13266634 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 23 | ||
rs2228603 | 0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 | 12 | ||
rs12784396 | 0.925 | 0.040 | 10 | 100267650 | 5 prime UTR variant | C/A;T | snv | 4 | |||
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs738409 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 88 | |
rs1800206 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 35 | |
rs626283 | 0.827 | 0.160 | 19 | 54173307 | upstream gene variant | C/G | snv | 0.61 | 7 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1800588 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 16 | ||
rs779021719 | 0.827 | 0.120 | 19 | 35284962 | stop gained | C/G;T | snv | 9.1E-05 | 5 | ||
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs58542926 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 42 |