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: rs386833732
rs386833732
CLN3
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs386833975
rs386833975
CLN5 ; FBXL3
2 0.925 0.120 13 76995990 missense variant A/G snv 0.700 0
dbSNP: rs768422260
rs768422260
CLN6
2 0.925 0.120 15 68208280 inframe deletion GAG/- delins 1.4E-05 0.700 0
dbSNP: rs786204753
rs786204753
TPP1
2 0.925 0.120 11 6615217 stop gained C/T snv 0.700 0
dbSNP: rs794729218
rs794729218
CLN5 ; FBXL3
1 1.000 0.120 13 76995933 frameshift variant G/- del 0.700 0
dbSNP: rs398122959
rs398122959
TPP1
2 0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs202189057
rs202189057
TPP1
2 0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs765380155
rs765380155
TPP1
2 0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
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: rs386833659
rs386833659
PPT1
2 0.925 0.120 1 40078659 splice acceptor variant C/A;T snv 4.0E-06 0.700 1.000 3 2000 2007
dbSNP: rs750428882
rs750428882
TPP1
2 1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06 0.700 0
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: 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: rs587779411
rs587779411
CLN8
5 0.851 0.160 8 1780498 missense variant C/G;T snv 4.0E-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 3 1997 2010
dbSNP: rs746085696
rs746085696
TPP1
1 1.000 0.120 11 6619191 splice region variant C/G;T snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs121908209
rs121908209
TPP1
2 0.925 0.120 11 6617045 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2003 2003
dbSNP: rs762896453
rs762896453
CLN3
1 1.000 0.120 16 28482353 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2000 2000
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: rs796052407
rs796052407
CTSD
1 1.000 0.120 11 1759569 missense variant G/A snv 4.0E-06 4.2E-05 0.010 1.000 1 2009 2009
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: 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: 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: rs119455957
rs119455957
TPP1
3 0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06 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