Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs386833730 | 1.000 | 0.120 | 16 | 28486464 | missense variant | C/G | snv | 4.0E-06 | 1 | ||
rs386833731 | 1.000 | 0.120 | 16 | 28486459 | missense variant | C/A;G | snv | 4.0E-06 | 1 | ||
rs386833733 | 1.000 | 0.120 | 16 | 28486449 | missense variant | C/T | snv | 1 | |||
rs906090744 | 1.000 | 0.120 | 6 | 38722996 | missense variant | G/A;C | snv | 4.1E-06; 4.1E-06 | 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 | ||
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 | |||
rs1057516267 | 1.000 | 0.120 | 16 | 28482326 | splice donor variant | C/T | snv | 1 | |||
rs1057516343 | 1.000 | 0.120 | 16 | 28491713 | splice donor variant | C/G;T | snv | 1 | |||
rs1057517287 | 1.000 | 0.120 | 16 | 28486346 | splice donor variant | C/A | snv | 1 | |||
rs1555468374 | 1.000 | 0.120 | 16 | 28484005 | splice donor variant | C/- | delins | 1 | |||
rs1555469452 | 1.000 | 0.120 | 16 | 28491481 | splice donor variant | C/- | delins | 1 | |||
rs386833710 | 1.000 | 0.120 | 16 | 28489288 | splice donor variant | A/C | snv | 1 | |||
rs386833728 | 1.000 | 0.120 | 16 | 28486577 | splice donor variant | C/G;T | snv | 1 | |||
rs386833741 | 1.000 | 0.120 | 16 | 28482309 | splice donor variant | CCTCGCTCCTCTTACCAGCGGTATTGC/- | delins | 2.1E-05 | 1 | ||
rs771788391 | 1.000 | 0.120 | 16 | 28482475 | splice donor variant | A/T | snv | 8.0E-06 | 1 | ||
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 | |
rs386833740 | 0.925 | 0.120 | 16 | 28482344 | frameshift variant | -/T | delins | 3.2E-05; 4.0E-06 | 2 | ||
rs1057516335 | 1.000 | 0.120 | 16 | 28484112 | frameshift variant | -/A | delins | 1 | |||
rs1057517215 | 1.000 | 0.120 | 16 | 28488603 | frameshift variant | AG/- | delins | 1 | |||
rs1555467473 | 1.000 | 0.120 | 16 | 28477866 | frameshift variant | -/A | delins | 1 | |||
rs1555469159 | 1.000 | 0.120 | 16 | 28489316 | frameshift variant | -/G | delins | 1 | |||
rs386833696 | 1.000 | 0.120 | 16 | 28482113 | frameshift variant | G/- | delins | 1 |