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: rs386833707
rs386833707
CLN3
1 1.000 0.120 16 28477561 frameshift variant C/- delins 0.700 0
dbSNP: rs386833709
rs386833709
CLN3
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 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: rs386833722
rs386833722
CLN3
1 1.000 0.120 16 28486651 splice acceptor variant C/G;T 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: rs386833725
rs386833725
CLN3
1 1.000 0.120 16 28486626 stop gained G/C snv 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: 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: 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: rs386833701
rs386833701
CLN3
1 1.000 0.120 16 28477739 stop gained C/A;G snv 4.0E-06 0.700 1.000 2 2004 2012
dbSNP: rs777625354
rs777625354
CLN3
1 1.000 0.120 16 28491758 start lost A/G snv 4.0E-06 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: rs386833717
rs386833717
CLN3
2 0.925 0.160 16 28487537 splice acceptor variant G/-;GGG delins 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: 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: rs587779397
rs587779397
CLN3
1 1.000 0.120 16 28487664 frameshift variant -/A ins 4.0E-06 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