Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2740210 | 0.827 | 0.120 | 20 | 3072609 | downstream gene variant | C/A | snv | 0.28 | 7 | ||
rs7766029 | 0.851 | 0.080 | 6 | 88137716 | downstream gene variant | T/C | snv | 0.51 | 7 | ||
rs2572431 | 1.000 | 0.040 | 8 | 11247568 | downstream gene variant | C/G;T | snv | 2 | |||
rs4813627 | 1.000 | 0.040 | 20 | 3074867 | downstream gene variant | A/G | snv | 0.51 | 2 | ||
rs1826787 | 1.000 | 0.040 | 10 | 105908635 | downstream gene variant | C/T | snv | 0.16 | 1 | ||
rs25531 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 72 | ||
rs1799964 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 47 | ||
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs2071559 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 26 | ||
rs4570625 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 25 | ||
rs1800955 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 8 | |||
rs2180619 | 1.000 | 0.040 | 6 | 88168233 | upstream gene variant | G/A | snv | 0.53 | 3 | ||
rs12484971 | 1.000 | 0.040 | 22 | 41043300 | upstream gene variant | A/T | snv | 0.25 | 1 | ||
rs28426374 | 1.000 | 0.040 | 14 | 74880037 | upstream gene variant | C/T | snv | 0.51 | 1 | ||
rs4937872 | 1.000 | 0.040 | 11 | 112956992 | upstream gene variant | A/G;T | snv | 1 | |||
rs75195552 | 1.000 | 0.040 | 17 | 63446864 | upstream gene variant | G/A | snv | 0.17 | 1 | ||
rs876657421 | 0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins | 11 | |||
rs1555206402 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 26 | |||
rs1085308056 | 0.851 | 0.160 | 10 | 87957850 | splice region variant | C/G | snv | 8 | |||
rs2235632 | 1.000 | 0.040 | 16 | 1343019 | splice region variant | G/A | snv | 0.46 | 0.42 | 3 | |
rs57875989 | 0.882 | 0.080 | 1 | 7829913 | splice acceptor variant | GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC | delins | 0.11 | 0.18 | 7 | |
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1555462347 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 34 | |||
rs80338903 | 0.701 | 0.360 | 1 | 216247095 | frameshift variant | C/- | del | 7.6E-04 | 5.4E-04 | 25 | |
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 |