Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386833738 | 0.925 | 0.120 | 16 | 28484003 | splice region variant | T/G | snv | 1.8E-04 | 2.1E-05 | 2 | |
rs1555468374 | 1.000 | 0.120 | 16 | 28484005 | splice donor variant | C/- | delins | 1 | |||
rs1057516335 | 1.000 | 0.120 | 16 | 28484112 | frameshift variant | -/A | delins | 1 | |||
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 | |||
rs1057517287 | 1.000 | 0.120 | 16 | 28486346 | splice donor variant | C/A | snv | 1 | |||
rs386833737 | 1.000 | 0.120 | 16 | 28486393 | stop gained | G/A | snv | 4.0E-06 | 1 | ||
rs386833736 | 0.925 | 0.120 | 16 | 28486401 | frameshift variant | -/A | delins | 1.2E-05 | 7.0E-06 | 2 | |
rs267606737 | 0.882 | 0.120 | 16 | 28486427 | stop gained | G/T | snv | 4.0E-06 | 3 | ||
rs386833735 | 1.000 | 0.120 | 16 | 28486438 | frameshift variant | C/-;CC | delins | 4.1E-06 | 1 | ||
rs386833733 | 1.000 | 0.120 | 16 | 28486449 | missense variant | C/T | snv | 1 | |||
rs386833732 | 0.925 | 0.120 | 16 | 28486455 | frameshift variant | C/-;CC | delins | 2 | |||
rs386833731 | 1.000 | 0.120 | 16 | 28486459 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||
rs386833730 | 1.000 | 0.120 | 16 | 28486464 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs386833729 | 1.000 | 0.120 | 16 | 28486465 | frameshift variant | CT/- | del | 1 | |||
rs386833728 | 1.000 | 0.120 | 16 | 28486577 | splice donor variant | C/G;T | snv | 1 | |||
rs386833727 | 1.000 | 0.120 | 16 | 28486602 | missense variant | A/G | snv | 1 | |||
rs386833725 | 1.000 | 0.120 | 16 | 28486626 | stop gained | G/C | snv | 1 | |||
rs386833724 | 1.000 | 0.120 | 16 | 28486629 | stop gained | G/A;C | snv | 1 | |||
rs386833723 | 1.000 | 0.120 | 16 | 28486639 | missense variant | C/G;T | snv | 4.2E-06 | 1 | ||
rs386833722 | 1.000 | 0.120 | 16 | 28486651 | splice acceptor variant | C/G;T | snv | 1 | |||
rs386833721 | 1.000 | 0.120 | 16 | 28486663 | non coding transcript exon variant | C/A;G;T | snv | 4.5E-06; 1.3E-05 | 1 | ||
rs386833720 | 0.925 | 0.120 | 16 | 28487492 | frameshift variant | C/- | delins | 4.0E-06 | 7.0E-06 | 2 | |
rs386833719 | 1.000 | 0.120 | 16 | 28487516 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
rs386833717 | 0.925 | 0.160 | 16 | 28487537 | splice acceptor variant | G/-;GGG | delins | 4.0E-06 | 2 |