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: rs1057516335
rs1057516335
CLN3
1 1.000 0.120 16 28484112 frameshift variant -/A delins 0.700 0
dbSNP: rs1555467473
rs1555467473
CLN3
1 1.000 0.120 16 28477866 frameshift variant -/A delins 0.700 0
dbSNP: rs386833715
rs386833715
CLN3
1 1.000 0.120 16 28487665 frameshift variant -/A delins 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: rs587779397
rs587779397
CLN3
1 1.000 0.120 16 28487664 frameshift variant -/A ins 4.0E-06 0.700 0
dbSNP: rs386833712
rs386833712
CLN3
1 1.000 0.120 16 28488651 frameshift variant -/C delins 0.700 1.000 1 2012 2012
dbSNP: rs1555469159
rs1555469159
CLN3
1 1.000 0.120 16 28489316 frameshift variant -/G delins 0.700 0
dbSNP: rs386833740
rs386833740
CLN3
2 0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 0.700 1.000 3 1997 2013
dbSNP: rs386833710
rs386833710
CLN3
1 1.000 0.120 16 28489288 splice donor variant A/C snv 0.700 0
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: rs386833714
rs386833714
CLN3
1 1.000 0.120 16 28487734 missense variant A/G snv 0.800 1.000 4 1997 2012
dbSNP: rs386833727
rs386833727
CLN3
1 1.000 0.120 16 28486602 missense variant A/G snv 0.800 1.000 4 1997 2012
dbSNP: rs777625354
rs777625354
CLN3
1 1.000 0.120 16 28491758 start lost A/G snv 4.0E-06 0.700 0
dbSNP: rs771788391
rs771788391
CLN3
1 1.000 0.120 16 28482475 splice donor variant A/T snv 8.0E-06 0.700 0
dbSNP: rs1057517215
rs1057517215
CLN3
1 1.000 0.120 16 28488603 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555468634
rs1555468634
CLN3
2 0.925 0.120 16 28485965 splice donor variant ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/- del 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: rs1555468374
rs1555468374
CLN3
1 1.000 0.120 16 28484005 splice donor variant C/- delins 0.700 0
dbSNP: rs1555469452
rs1555469452
CLN3
1 1.000 0.120 16 28491481 splice donor variant C/- delins 0.700 0
dbSNP: rs386833707
rs386833707
CLN3
1 1.000 0.120 16 28477561 frameshift variant C/- delins 0.700 0
dbSNP: rs386833732
rs386833732
CLN3
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs386833735
rs386833735
CLN3
1 1.000 0.120 16 28486438 frameshift variant C/-;CC delins 4.1E-06 0.700 0
dbSNP: rs386833702
rs386833702
CLN3
1 1.000 0.120 16 28477636 splice acceptor variant C/A snv 8.0E-06 7.0E-06 0.700 1.000 3 1997 2015
dbSNP: rs1057517287
rs1057517287
CLN3
1 1.000 0.120 16 28486346 splice donor variant C/A snv 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