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: 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: rs386833696
rs386833696
CLN3
1 1.000 0.120 16 28482113 frameshift variant G/- delins 0.700 0
dbSNP: rs386833699
rs386833699
CLN3
1 1.000 0.120 16 28482105 missense variant C/G snv 0.700 0
dbSNP: rs386833700
rs386833700
CLN3
1 1.000 0.120 16 28491502 stop gained C/T snv 4.0E-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: 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: rs386833705
rs386833705
CLN3
1 1.000 0.120 16 28489387 splice acceptor variant C/T snv 4.2E-06 0.700 0
dbSNP: rs386833706
rs386833706
CLN3
1 1.000 0.120 16 28477565 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs386833707
rs386833707
CLN3
1 1.000 0.120 16 28477561 frameshift variant C/- delins 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: rs386833710
rs386833710
CLN3
1 1.000 0.120 16 28489288 splice donor variant A/C snv 0.700 0
dbSNP: rs386833711
rs386833711
CLN3
1 1.000 0.120 16 28489285 splice region variant C/G snv 0.700 0
dbSNP: rs386833713
rs386833713
CLN3
1 1.000 0.120 16 28488620 stop gained G/A snv 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: rs386833716
rs386833716
CLN3
1 1.000 0.120 16 28487662 missense variant C/T snv 4.0E-06 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: rs386833722
rs386833722
CLN3
1 1.000 0.120 16 28486651 splice acceptor variant C/G;T 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: rs386833724
rs386833724
CLN3
1 1.000 0.120 16 28486629 stop gained G/A;C snv 0.700 0
dbSNP: rs386833725
rs386833725
CLN3
1 1.000 0.120 16 28486626 stop gained G/C snv 0.700 0
dbSNP: rs386833726
rs386833726
CLN3
1 1.000 0.120 16 28491558 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs386833733
rs386833733
CLN3
1 1.000 0.120 16 28486449 missense variant C/T snv 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: rs386833737
rs386833737
CLN3
1 1.000 0.120 16 28486393 stop gained G/A snv 4.0E-06 0.700 0