Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs56144125 0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 6
rs1564855725 0.882 0.160 11 6617621 splice region variant C/T snv 5
rs587779411 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-06 5
rs137852700 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 4
rs104894064 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 3
rs104894483 0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 3
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
rs397515352 0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 3
rs104894385 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 2
rs104894386 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 2
rs1057516677 0.925 0.120 16 28477875 stop gained G/T snv 2
rs113019349 0.925 0.120 11 6616004 splice donor variant C/G;T snv 2
rs121908080 0.925 0.120 15 68211698 inframe deletion ATG/- delins 2
rs121908199 0.925 0.120 11 6615542 missense variant C/T snv 2
rs121908202 0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 2
rs121908209 0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 2
rs140948465 0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 2
rs144495588 0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 2
rs1554902052 0.925 0.120 11 6617430 splice acceptor variant T/C snv 2
rs1554902216 0.925 0.120 11 6618820 frameshift variant AG/- delins 2
rs1555468634 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 2
rs202189057 0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 2
rs28940280 0.925 0.120 13 77000580 missense variant G/A snv 8.0E-06 2
rs386833651 0.925 0.120 1 40089409 splice donor variant C/T snv 2