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: 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: rs386833737
rs386833737
CLN3
1 1.000 0.120 16 28486393 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs386833739
rs386833739
CLN3
1 1.000 0.120 16 28482472 splice region variant C/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: 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: 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: rs386833736
rs386833736
CLN3
2 0.925 0.120 16 28486401 frameshift variant -/A delins 1.2E-05 7.0E-06 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: 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: 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: rs386833709
rs386833709
CLN3
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 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: 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: rs386833697
rs386833697
CLN3
1 1.000 0.120 16 28482107 stop gained G/A snv 8.1E-06 2.1E-05 0.700 1.000 2 2012 2013
dbSNP: rs386833695
rs386833695
CLN3
2 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.800 1.000 10 1997 2013
dbSNP: rs142456044
rs142456044
CLN3
1 1.000 0.120 16 28477818 stop gained G/A;C snv 1.2E-05 2.8E-05 0.700 0