Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3836790 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 5 | |||
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
rs146052672 | 0.851 | 0.160 | 6 | 34242693 | intron variant | -/C | delins | 5 | |||
rs3025058 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 26 | ||
rs312262690 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 28 | ||
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs36217263 | 1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 | 4 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs3745297 | 0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 | 10 | |
rs316019 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 8 | |
rs121912594 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 7 | |||
rs17030613 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 7 | ||||
rs729302 | 0.827 | 0.160 | 7 | 128928906 | intergenic variant | A/C | snv | 0.28 | 6 | ||
rs12500426 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 5 | ||
rs201739205 | 0.851 | 0.200 | 17 | 42552898 | 5 prime UTR variant | A/C | snv | 7.8E-03 | 8.2E-03 | 5 | |
rs35036378 | 0.851 | 0.200 | 14 | 64294403 | 5 prime UTR variant | A/C | snv | 7.0E-03 | 5 | ||
rs3761581 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 5 | ||
rs4833103 | 0.925 | 0.160 | 4 | 38813881 | intron variant | A/C | snv | 0.64 | 5 | ||
rs4387287 | 10 | 103918139 | 5 prime UTR variant | A/C | snv | 0.69 | 4 | ||||
rs7201 | 0.925 | 0.160 | 16 | 55505702 | 3 prime UTR variant | A/C | snv | 0.37 | 4 | ||
rs8098380 | 18 | 721563 | downstream gene variant | A/C | snv | 0.33 | 4 | ||||
rs113296370 | 1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 | 3 | ||
rs1372503923 | 0.925 | 0.160 | 5 | 53048731 | missense variant | A/C | snv | 3 | |||
rs1050606 | 1.000 | 0.080 | 4 | 121696891 | 5 prime UTR variant | A/C | snv | 0.50 | 2 | ||
rs4686340 | 3 | 9303534 | intron variant | A/C | snv | 0.80 | 2 |