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: rs137852696
rs137852696
PPT1
3 0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs386833698
rs386833698
CLN3
2 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1554902052
rs1554902052
TPP1
2 0.925 0.120 11 6617430 splice acceptor variant T/C snv 0.700 1.000 2 2001 2015
dbSNP: rs137852695
rs137852695
PPT1
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
dbSNP: rs763162812
rs763162812
TPP1
2 0.925 0.120 11 6616720 missense variant T/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 1.000 6 1998 2013
dbSNP: rs768422260
rs768422260
CLN6
2 0.925 0.120 15 68208280 inframe deletion GAG/- delins 1.4E-05 0.700 0
dbSNP: rs267606737
rs267606737
CLN3
3 0.882 0.120 16 28486427 stop gained G/T snv 4.0E-06 0.710 1.000 1 2009 2009
dbSNP: rs1057516677
rs1057516677
CLN3
2 0.925 0.120 16 28477875 stop gained G/T snv 0.700 0
dbSNP: rs144495588
rs144495588
CLN8
2 0.925 0.120 8 1771553 stop gained G/C;T snv 8.0E-06; 1.2E-05 0.700 0
dbSNP: rs154774640
rs154774640
CLN6
2 0.925 0.120 15 68218584 stop gained G/C snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs1564855860
rs1564855860
TPP1
1 1.000 0.120 11 6617769 stop gained G/C snv 0.700 0
dbSNP: rs386833694
rs386833694
CLN3
2 0.925 0.120 16 28482161 missense variant G/A;T snv 4.0E-06 0.700 1.000 6 1997 2009
dbSNP: rs759080581
rs759080581
TPP1
1 1.000 0.120 11 6618809 stop gained G/A;T snv 1.2E-05; 4.0E-06 0.700 1.000 2 1999 2013
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
2 0.925 0.120 13 76992176 stop gained G/A;T snv 2.7E-05; 3.1E-05 0.700 0
dbSNP: rs140948465
rs140948465
MFSD8
2 0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs137852700
rs137852700
PPT1
4 0.851 0.120 1 40089495 stop gained G/A;C snv 2.4E-04; 1.2E-05 0.710 1.000 4 1998 2014
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
2 0.925 0.120 13 76995077 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs750428882
rs750428882
TPP1
2 1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs119455955
rs119455955
TPP1
4 0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04 0.700 1.000 5 1997 2013
dbSNP: rs121908202
rs121908202
TPP1
2 0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05 0.700 1.000 4 1999 2013
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
2 0.925 0.120 13 76996086 stop gained G/A snv 1.6E-05 3.5E-05 0.700 1.000 3 2009 2015
dbSNP: rs1267314028
rs1267314028
CLN3
1 1.000 0.120 16 28486388 synonymous variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs386833709
rs386833709
CLN3
2 0.925 0.120 16 28489298 stop gained G/A snv 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs63751177
rs63751177
GRN
2 1.000 0.120 17 44351438 stop gained G/A snv 0.010 1.000 1 2019 2019