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: 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: rs386833717
rs386833717
CLN3
2 0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 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: rs386833732
rs386833732
CLN3
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 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: rs386833736
rs386833736
CLN3
2 0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-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
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: rs386833741
rs386833741
CLN3
1 1.000 0.120 16 28482309 splice donor variant CCTCGCTCCTCTTACCAGCGGTATTGC/- delins 2.1E-05 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: rs386833743
rs386833743
CLN3
1 1.000 0.120 16 28482182 stop gained G/A snv 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: rs771788391
rs771788391
CLN3
1 1.000 0.120 16 28482475 splice donor variant A/T 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: 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