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: rs386833708
rs386833708
CLN3
1 1.000 0.120 16 28491759 start lost T/C;G snv 8.0E-06 0.700 0
dbSNP: rs777625354
rs777625354
CLN3
1 1.000 0.120 16 28491758 start lost A/G snv 4.0E-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: rs386833704
rs386833704
CLN3
1 1.000 0.120 16 28491477 splice region variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs386833711
rs386833711
CLN3
1 1.000 0.120 16 28489285 splice region variant C/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: rs386833739
rs386833739
CLN3
1 1.000 0.120 16 28482472 splice region variant C/T snv 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: rs1057517350
rs1057517350
CLN3
1 1.000 0.120 16 28482673 splice acceptor variant C/T snv 0.700 0
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: rs1555469089
rs1555469089
CLN3
1 1.000 0.120 16 28488663 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555469477
rs1555469477
CLN3
1 1.000 0.120 16 28491561 splice acceptor variant C/T snv 0.700 0
dbSNP: rs386833705
rs386833705
CLN3
1 1.000 0.120 16 28489387 splice acceptor variant C/T snv 4.2E-06 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: rs386833722
rs386833722
CLN3
1 1.000 0.120 16 28486651 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs386833742
rs386833742
CLN3
1 1.000 0.120 16 28482199 splice acceptor variant C/A;T snv 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: rs386833712
rs386833712
CLN3
1 1.000 0.120 16 28488651 frameshift variant -/C delins 0.700 1.000 1 2012 2012
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: rs386833729
rs386833729
CLN3
1 1.000 0.120 16 28486465 frameshift variant CT/- del 0.700 1.000 1 1997 1997
dbSNP: rs1057516335
rs1057516335
CLN3
1 1.000 0.120 16 28484112 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517215
rs1057517215
CLN3
1 1.000 0.120 16 28488603 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555467473
rs1555467473
CLN3
1 1.000 0.120 16 28477866 frameshift variant -/A delins 0.700 0
dbSNP: rs1555469159
rs1555469159
CLN3
1 1.000 0.120 16 28489316 frameshift variant -/G delins 0.700 0