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: rs63751177
rs63751177
GRN
2 1.000 0.120 17 44351438 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs750033880
rs750033880
KCTD7
3 0.925 0.120 7 66633302 missense variant G/A snv 1.4E-05 0.010 1.000 1 2019 2019
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: 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: 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: rs1554902052
rs1554902052
TPP1
2 0.925 0.120 11 6617430 splice acceptor variant T/C snv 0.700 1.000 2 2001 2015
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: 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: rs386833698
rs386833698
CLN3
2 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 1.000 1 2014 2014
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: rs386833966
rs386833966
CLN5 ; FBXL3
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 1.000 6 1998 2013
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: 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: rs386833969
rs386833969
CLN5 ; FBXL3
2 0.925 0.120 13 77000918 frameshift variant AT/- delins 0.700 1.000 5 2002 2013
dbSNP: rs587776892
rs587776892
DNAJC5
2 0.925 0.120 20 63930871 inframe deletion CTC/- delins 0.700 1.000 5 2011 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: 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: 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: 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: 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: rs386833967
rs386833967
CLN5 ; FBXL3
2 0.925 0.120 13 77000845 frameshift variant AACA/- delins 2.8E-05 0.700 1.000 3 2008 2012
dbSNP: rs786204644
rs786204644
CLN5 ; FBXL3
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 2 1998 2012
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: rs386833979
rs386833979
CLN5 ; FBXL3
2 0.925 0.120 13 76996083 frameshift variant -/C delins 0.700 1.000 1 2012 2012
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