Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516677
CLN3
0.925 0.120 16 28477875 stop gained G/T snv 2
rs1555468632
CLN3
0.925 0.160 16 28485963 splice donor variant TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/- delins 2
rs1555468634
CLN3
0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 2
rs386833698
CLN3
0.925 0.120 16 28482102 splice region variant T/G snv 2
rs386833709
CLN3
0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 2
rs386833732
CLN3
0.925 0.120 16 28486455 frameshift variant C/-;CC delins 2
rs1057516267
CLN3
1.000 0.120 16 28482326 splice donor variant C/T snv 1
rs1057516335
CLN3
1.000 0.120 16 28484112 frameshift variant -/A delins 1
rs1057516343
CLN3
1.000 0.120 16 28491713 splice donor variant C/G;T snv 1
rs1057517215
CLN3
1.000 0.120 16 28488603 frameshift variant AG/- delins 1
rs1057517287
CLN3
1.000 0.120 16 28486346 splice donor variant C/A snv 1
rs1057517350
CLN3
1.000 0.120 16 28482673 splice acceptor variant C/T snv 1
rs1418997146
CLN3
1.000 0.120 16 28482200 splice acceptor variant T/G snv 1
rs1478660606
CLN3
1.000 0.120 16 28487743 splice acceptor variant T/G snv 7.0E-06 1
rs1555467473
CLN3
1.000 0.120 16 28477866 frameshift variant -/A delins 1
rs1555468374
CLN3
1.000 0.120 16 28484005 splice donor variant C/- delins 1
rs1555469089
CLN3
1.000 0.120 16 28488663 splice acceptor variant C/T snv 1
rs1555469159
CLN3
1.000 0.120 16 28489316 frameshift variant -/G delins 1
rs1555469452
CLN3
1.000 0.120 16 28491481 splice donor variant C/- delins 1
rs1555469477
CLN3
1.000 0.120 16 28491561 splice acceptor variant C/T snv 1
rs386833696
CLN3
1.000 0.120 16 28482113 frameshift variant G/- delins 1
rs386833699
CLN3
1.000 0.120 16 28482105 missense variant C/G snv 1
rs386833707
CLN3
1.000 0.120 16 28477561 frameshift variant C/- delins 1
rs386833710
CLN3
1.000 0.120 16 28489288 splice donor variant A/C snv 1
rs386833711
CLN3
1.000 0.120 16 28489285 splice region variant C/G snv 1