Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs505922 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 34 | |||
rs687289 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 15 | |||
rs1555162597 | 1.000 | 0.120 | 12 | 51991357 | splice acceptor variant | ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- | delins | 1 | |||
rs387906389 | 1.000 | 0.120 | 12 | 51986840 | frameshift variant | GATGA/- | del | 1 | |||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs150495372 | 0.925 | 0.120 | 4 | 99313834 | missense variant | C/T | snv | 3.7E-04 | 3 | ||
rs698 | 0.724 | 0.240 | 4 | 99339632 | missense variant | T/A;C | snv | 0.35 | 20 | ||
rs1693482 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 12 | |
rs35385902 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 9 | ||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs4994 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 65 | |
rs1209809979 | 0.925 | 0.120 | 1 | 45568989 | missense variant | A/G | snv | 4.0E-06 | 3 | ||
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs940553638 | 0.827 | 0.200 | 12 | 111783222 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 6 | |
rs1130409 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 72 | ||
rs10983614 | 1.000 | 0.120 | 9 | 117306874 | intron variant | T/A;C | snv | 1 | |||
rs1801516 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 39 | |
rs786203926 | 0.882 | 0.120 | 11 | 108227678 | synonymous variant | T/C | snv | 4 | |||
rs372883 | 0.827 | 0.360 | 21 | 29345416 | 3 prime UTR variant | T/C | snv | 0.53 | 5 | ||
rs7190458 | 1.000 | 0.120 | 16 | 75229763 | synonymous variant | G/A | snv | 5.1E-02 | 0.11 | 1 | |
rs708224 | 0.925 | 0.120 | 12 | 32283475 | intron variant | A/G | snv | 0.50 | 2 | ||
rs9904341 | 0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 | 20 | ||
rs1799966 | 0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 | 8 | ||
rs11571836 | 0.827 | 0.200 | 13 | 32399302 | 3 prime UTR variant | A/G;T | snv | 6 |