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: rs104894483
rs104894483
CLN6
3 0.925 0.120 15 68214373 stop gained C/A;G;T snv 6.8E-05; 2.6E-03; 2.0E-05; 4.0E-06 0.700 0
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: rs56144125
rs56144125
TPP1
6 0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05 0.700 1.000 6 1997 2013
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: 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: rs104894064
rs104894064
CLN8
3 0.882 0.120 8 1771124 missense variant C/G;T snv 1.0E-04; 2.4E-05 0.700 1.000 2 2000 2004
dbSNP: rs756564767
rs756564767
TPP1
3 0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05 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 0
dbSNP: rs104894060
rs104894060
CLN8
3 0.882 0.120 8 1780316 missense variant C/T snv 3.2E-05 7.0E-06 0.700 1.000 4 2004 2014
dbSNP: rs386833634
rs386833634
PPT1
2 0.925 0.120 1 40092462 frameshift variant -/T delins 3.2E-05; 4.0E-06; 4.0E-06 1.4E-05 0.700 0
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: rs397515352
rs397515352
CLN6
3 0.925 0.120 15 68211844 frameshift variant -/G delins 2.4E-05; 2.8E-05 0.700 0
dbSNP: rs386833695
rs386833695
CLN3
2 0.925 0.120 16 28482160 missense variant C/T snv 2.4E-05 2.1E-05 0.700 1.000 6 1997 2013
dbSNP: rs121434286
rs121434286
CLN3
3 0.882 0.120 16 28482500 stop gained C/A;T snv 2.4E-05 0.700 0
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: rs121908200
rs121908200
TPP1
2 0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs546989392
rs546989392
CLN5 ; FBXL3
2 0.925 0.120 13 76996010 stop gained C/T snv 2.0E-05 7.7E-05 0.700 1.000 1 2013 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: 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: 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: rs119455954
rs119455954
TPP1
2 0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05 0.700 1.000 3 1998 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: 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: 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: 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