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: 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: rs1555468374
rs1555468374
CLN3
1 1.000 0.120 16 28484005 splice donor variant C/- delins 0.700 0
dbSNP: rs1057516335
rs1057516335
CLN3
1 1.000 0.120 16 28484112 frameshift variant -/A 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: rs1057517287
rs1057517287
CLN3
1 1.000 0.120 16 28486346 splice donor variant C/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: rs386833736
rs386833736
CLN3
2 0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 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: rs386833735
rs386833735
CLN3
1 1.000 0.120 16 28486438 frameshift variant C/-;CC delins 4.1E-06 0.700 0
dbSNP: rs386833733
rs386833733
CLN3
1 1.000 0.120 16 28486449 missense variant C/T snv 0.700 0
dbSNP: rs386833732
rs386833732
CLN3
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs386833731
rs386833731
CLN3
1 1.000 0.120 16 28486459 missense variant C/A;G snv 4.0E-06 0.800 1.000 4 1997 2012
dbSNP: rs386833730
rs386833730
CLN3
1 1.000 0.120 16 28486464 missense variant C/G snv 4.0E-06 0.810 1.000 5 1997 2012
dbSNP: rs386833729
rs386833729
CLN3
1 1.000 0.120 16 28486465 frameshift variant CT/- del 0.700 1.000 1 1997 1997
dbSNP: rs386833728
rs386833728
CLN3
1 1.000 0.120 16 28486577 splice donor variant C/G;T snv 0.700 1.000 2 1999 2015
dbSNP: rs386833727
rs386833727
CLN3
1 1.000 0.120 16 28486602 missense variant A/G snv 0.800 1.000 4 1997 2012
dbSNP: rs386833725
rs386833725
CLN3
1 1.000 0.120 16 28486626 stop gained G/C snv 0.700 0
dbSNP: rs386833724
rs386833724
CLN3
1 1.000 0.120 16 28486629 stop gained G/A;C snv 0.700 0
dbSNP: rs386833723
rs386833723
CLN3
1 1.000 0.120 16 28486639 missense variant C/G;T snv 4.2E-06 0.700 0
dbSNP: rs386833722
rs386833722
CLN3
1 1.000 0.120 16 28486651 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs386833721
rs386833721
CLN3
1 1.000 0.120 16 28486663 non coding transcript exon variant C/A;G;T snv 4.5E-06; 1.3E-05 0.700 0
dbSNP: rs386833720
rs386833720
CLN3
2 0.925 0.120 16 28487492 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs386833719
rs386833719
CLN3
1 1.000 0.120 16 28487516 missense variant A/C;G snv 4.0E-06 0.800 1.000 4 1997 2012
dbSNP: rs386833717
rs386833717
CLN3
2 0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 4.0E-06 0.700 0