Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs387906315 | 0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 | 8 | |
rs421016 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 30 | ||
rs77960347 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 6 | ||||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs2230912 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 16 | |
rs9296158 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 16 | ||
rs2227631 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 13 | ||
rs7973260 | 0.851 | 0.120 | 12 | 117937681 | intron variant | A/G | snv | 0.83 | 7 | ||
rs1409851868 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 6 | |||
rs161645 | 1.000 | 0.040 | 5 | 104734216 | intron variant | A/G | snv | 0.77 | 2 | ||
rs1403522266 | 4 | 47320137 | missense variant | A/G | snv | 4.0E-06 | 1 | ||||
rs1475157 | 6 | 6016936 | intergenic variant | A/G | snv | 0.17 | 1 | ||||
rs3756290 | 5 | 131616057 | intron variant | A/G | snv | 0.56 | 1 | ||||
rs5440 | 12 | 6839735 | 3 prime UTR variant | A/G | snv | 0.56 | 1 | ||||
rs58682566 | 18 | 45951902 | intron variant | A/G | snv | 9.9E-02 | 1 | ||||
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs53576 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 42 | |||
rs11932595 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 12 | |||
rs112025902 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 4 | |||
rs4290270 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 17 | |
rs33388 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 12 |