Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057518923 | 0.925 | 0.200 | 16 | 2115395 | frameshift variant | -/C | delins | 3 | |||
rs16347 | 0.925 | 0.080 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.70 | 2 | ||
rs777476179 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 5 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs75444904 | 0.851 | 0.160 | 16 | 72061751 | intron variant | A/C | snv | 2.4E-02 | 4 | ||
rs730947 | 0.925 | 0.080 | 2 | 218838575 | upstream gene variant | A/C | snv | 1.0E-01 | 2 | ||
rs1044498 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 15 | ||
rs12137135 | 0.925 | 0.080 | 1 | 22348728 | intergenic variant | A/C;G | snv | 2 | |||
rs145640112 | 0.925 | 0.080 | 4 | 186250267 | missense variant | A/C;G | snv | 1.8E-04; 4.0E-06 | 2 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 | |
rs1805087 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 135 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs1800469 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 78 | ||
rs1024611 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 63 | ||
rs1801275 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 58 | |
rs1570360 | 0.641 | 0.680 | 6 | 43770093 | upstream gene variant | A/G | snv | 0.76 | 38 | ||
rs1042636 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 23 | |
rs995922697 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 15 | ||
rs7652589 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 13 | ||
rs13333226 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 10 | ||
rs2576178 | 0.790 | 0.160 | 10 | 88583641 | 5 prime UTR variant | A/G | snv | 0.29 | 9 |