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: rs1555468632
rs1555468632
CLN3
2 0.925 0.160 16 28485963 splice donor variant TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/- delins 0.700 1.000 3 1995 2008
dbSNP: rs1418997146
rs1418997146
CLN3
1 1.000 0.120 16 28482200 splice acceptor variant T/G snv 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: rs386833698
rs386833698
CLN3
2 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 0
dbSNP: rs386833738
rs386833738
CLN3
2 0.925 0.120 16 28484003 splice region variant T/G snv 1.8E-04 2.1E-05 0.700 0
dbSNP: rs386833708
rs386833708
CLN3
1 1.000 0.120 16 28491759 start lost T/C;G snv 8.0E-06 0.700 0
dbSNP: rs386833703
rs386833703
CLN3
1 1.000 0.120 16 28477586 missense variant T/C snv 4.0E-06 7.0E-06 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: rs1057516677
rs1057516677
CLN3
2 0.925 0.120 16 28477875 stop gained G/T snv 0.700 0
dbSNP: rs386833725
rs386833725
CLN3
1 1.000 0.120 16 28486626 stop gained G/C snv 0.700 0
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: rs386833706
rs386833706
CLN3
1 1.000 0.120 16 28477565 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs906090744
rs906090744
DNAH8
1 1.000 0.120 6 38722996 missense variant G/A;C snv 4.1E-06; 4.1E-06 0.010 1.000 1 2005 2005
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: rs386833724
rs386833724
CLN3
1 1.000 0.120 16 28486629 stop gained G/A;C snv 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: rs386833709
rs386833709
CLN3
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs386833713
rs386833713
CLN3
1 1.000 0.120 16 28488620 stop gained G/A snv 0.700 0
dbSNP: rs386833737
rs386833737
CLN3
1 1.000 0.120 16 28486393 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs386833743
rs386833743
CLN3
1 1.000 0.120 16 28482182 stop gained G/A snv 0.700 0
dbSNP: rs386833717
rs386833717
CLN3
2 0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 4.0E-06 0.700 0
dbSNP: rs386833696
rs386833696
CLN3
1 1.000 0.120 16 28482113 frameshift variant G/- delins 0.700 0
dbSNP: rs386833729
rs386833729
CLN3
1 1.000 0.120 16 28486465 frameshift variant CT/- del 0.700 1.000 1 1997 1997
dbSNP: rs386833741
rs386833741
CLN3
1 1.000 0.120 16 28482309 splice donor variant CCTCGCTCCTCTTACCAGCGGTATTGC/- delins 2.1E-05 0.700 0
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