Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs140948465 0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 2
rs587778809 0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 2
rs796052407 1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 1
rs104894064 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 3
rs144495588 0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 2
rs104894060 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 3
rs587779411 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 5
rs1057516677 0.925 0.120 16 28477875 stop gained G/T snv 2
rs386833698 0.925 0.120 16 28482102 splice region variant T/G snv 2
rs386833695 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 2
rs386833694 0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 2
rs386833740 0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 2
rs762896453 1.000 0.120 16 28482353 synonymous variant G/A snv 4.0E-06 1
rs121434286 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 3
rs1555468634 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 2
rs1267314028 1.000 0.120 16 28486388 synonymous variant G/A snv 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
rs386833732 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 2
rs386833720 0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 2
rs386833709 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 2
rs386833659 0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 2
rs386833651 0.925 0.120 1 40089409 splice donor variant C/T snv 2
rs137852700 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 4
rs137852695 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 4