Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121434286 | 0.882 | 0.120 | 16 | 28482500 | stop gained | C/A;T | snv | 2.4E-05 | 3 | ||
rs267606737 | 0.882 | 0.120 | 16 | 28486427 | stop gained | G/T | snv | 4.0E-06 | 3 | ||
rs1057516677 | 0.925 | 0.120 | 16 | 28477875 | stop gained | G/T | snv | 2 | |||
rs1555468632 | 0.925 | 0.160 | 16 | 28485963 | splice donor variant | TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/- | delins | 2 | |||
rs1555468634 | 0.925 | 0.120 | 16 | 28485965 | splice donor variant | ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- | del | 2 | |||
rs386833694 | 0.925 | 0.120 | 16 | 28482161 | missense variant | G/A;T | snv | 4.0E-06 | 2 | ||
rs386833695 | 0.925 | 0.120 | 16 | 28482160 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 2 | |
rs386833698 | 0.925 | 0.120 | 16 | 28482102 | splice region variant | T/G | snv | 2 | |||
rs386833709 | 0.925 | 0.120 | 16 | 28489298 | stop gained | G/A | snv | 1.4E-05 | 2 | ||
rs386833717 | 0.925 | 0.160 | 16 | 28487537 | splice acceptor variant | G/-;GGG | delins | 4.0E-06 | 2 | ||
rs386833720 | 0.925 | 0.120 | 16 | 28487492 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 2 | |
rs386833732 | 0.925 | 0.120 | 16 | 28486455 | frameshift variant | C/-;CC | delins | 2 | |||
rs386833736 | 0.925 | 0.120 | 16 | 28486401 | frameshift variant | -/A | delins | 1.2E-05 | 7.0E-06 | 2 | |
rs386833738 | 0.925 | 0.120 | 16 | 28484003 | splice region variant | T/G | snv | 1.8E-04 | 2.1E-05 | 2 | |
rs386833740 | 0.925 | 0.120 | 16 | 28482344 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06 | 2 | ||
rs386833744 | 0.925 | 0.160 | 16 | 28482173 | missense variant | C/A;T | snv | 2.0E-05 | 2 | ||
rs1057516267 | 1.000 | 0.120 | 16 | 28482326 | splice donor variant | C/T | snv | 1 | |||
rs1057516335 | 1.000 | 0.120 | 16 | 28484112 | frameshift variant | -/A | delins | 1 | |||
rs1057516343 | 1.000 | 0.120 | 16 | 28491713 | splice donor variant | C/G;T | snv | 1 | |||
rs1057517215 | 1.000 | 0.120 | 16 | 28488603 | frameshift variant | AG/- | delins | 1 | |||
rs1057517287 | 1.000 | 0.120 | 16 | 28486346 | splice donor variant | C/A | snv | 1 | |||
rs1057517350 | 1.000 | 0.120 | 16 | 28482673 | splice acceptor variant | C/T | snv | 1 | |||
rs1418997146 | 1.000 | 0.120 | 16 | 28482200 | splice acceptor variant | T/G | snv | 1 | |||
rs142456044 | 1.000 | 0.120 | 16 | 28477818 | stop gained | G/A;C | snv | 1.2E-05 | 2.8E-05 | 1 | |
rs1478660606 | 1.000 | 0.120 | 16 | 28487743 | splice acceptor variant | T/G | snv | 7.0E-06 | 1 |