Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121434286
CLN3
0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 3
rs267606737
CLN3
0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 3
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
rs386833694
CLN3
0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 2
rs386833695
CLN3
0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 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
rs386833717
CLN3
0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 4.0E-06 2
rs386833720
CLN3
0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 2
rs386833732
CLN3
0.925 0.120 16 28486455 frameshift variant C/-;CC delins 2
rs386833736
CLN3
0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 2
rs386833738
CLN3
0.925 0.120 16 28484003 splice region variant T/G snv 1.8E-04 2.1E-05 2
rs386833740
CLN3
0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 2
rs386833744
CLN3
0.925 0.160 16 28482173 missense variant C/A;T snv 2.0E-05 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
rs142456044
CLN3
1.000 0.120 16 28477818 stop gained G/A;C snv 1.2E-05 2.8E-05 1
rs1478660606
CLN3
1.000 0.120 16 28487743 splice acceptor variant T/G snv 7.0E-06 1