Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516267
rs1057516267
CLN3
1 1.000 0.120 16 28482326 splice donor variant C/T snv 0.700 0
dbSNP: rs1057516335
rs1057516335
CLN3
1 1.000 0.120 16 28484112 frameshift variant -/A delins 0.700 0
dbSNP: rs1057516343
rs1057516343
CLN3
1 1.000 0.120 16 28491713 splice donor variant C/G;T snv 0.700 0
dbSNP: rs1057516677
rs1057516677
CLN3
2 0.925 0.120 16 28477875 stop gained G/T snv 0.700 0
dbSNP: rs1057517215
rs1057517215
CLN3
1 1.000 0.120 16 28488603 frameshift variant AG/- delins 0.700 0
dbSNP: rs1057517287
rs1057517287
CLN3
1 1.000 0.120 16 28486346 splice donor variant C/A snv 0.700 0
dbSNP: rs1057517350
rs1057517350
CLN3
1 1.000 0.120 16 28482673 splice acceptor variant C/T snv 0.700 0
dbSNP: rs121434286
rs121434286
CLN3
3 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.820 1.000 6 1997 2015
dbSNP: rs1418997146
rs1418997146
CLN3
1 1.000 0.120 16 28482200 splice acceptor variant T/G snv 0.700 0
dbSNP: rs142456044
rs142456044
CLN3
1 1.000 0.120 16 28477818 stop gained G/A;C snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs1478660606
rs1478660606
CLN3
1 1.000 0.120 16 28487743 splice acceptor variant T/G snv 7.0E-06 0.700 0
dbSNP: rs1555467473
rs1555467473
CLN3
1 1.000 0.120 16 28477866 frameshift variant -/A delins 0.700 0
dbSNP: rs1555468374
rs1555468374
CLN3
1 1.000 0.120 16 28484005 splice donor variant C/- delins 0.700 0
dbSNP: rs1555468632
rs1555468632
CLN3
2 0.925 0.160 16 28485963 splice donor variant TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/- delins 0.700 1.000 3 1995 2008
dbSNP: rs1555468634
rs1555468634
CLN3
2 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 0.700 0
dbSNP: rs1555469089
rs1555469089
CLN3
1 1.000 0.120 16 28488663 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555469159
rs1555469159
CLN3
1 1.000 0.120 16 28489316 frameshift variant -/G delins 0.700 0
dbSNP: rs1555469452
rs1555469452
CLN3
1 1.000 0.120 16 28491481 splice donor variant C/- delins 0.700 0
dbSNP: rs1555469477
rs1555469477
CLN3
1 1.000 0.120 16 28491561 splice acceptor variant C/T snv 0.700 0
dbSNP: rs267606737
rs267606737
CLN3
3 0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 0.700 1.000 3 2009 2012
dbSNP: rs386833694
rs386833694
CLN3
2 0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 0.800 1.000 8 1997 2012
dbSNP: rs386833695
rs386833695
CLN3
2 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.800 1.000 10 1997 2013
dbSNP: rs386833696
rs386833696
CLN3
1 1.000 0.120 16 28482113 frameshift variant G/- delins 0.700 0
dbSNP: rs386833697
rs386833697
CLN3
1 1.000 0.120 16 28482107 stop gained G/A snv 8.1E-06 2.1E-05 0.700 1.000 2 2012 2013
dbSNP: rs386833698
rs386833698
CLN3
2 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 0