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: 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: rs1267314028
rs1267314028
CLN3
1 1.000 0.120 16 28486388 synonymous variant G/A snv 0.010 1.000 1 2000 2000
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: 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: 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: rs1060502179
rs1060502179
TPP1
1 1.000 0.120 11 6618823 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1555273604
rs1555273604
CLN5 ; FBXL3
1 1.000 0.120 13 76992207 frameshift variant -/ATCCGGGCTGG delins 0.700 0
dbSNP: rs1555273881
rs1555273881
CLN5 ; FBXL3
1 1.000 0.120 13 76995075 frameshift variant C/- delins 0.700 0
dbSNP: rs1564855860
rs1564855860
TPP1
1 1.000 0.120 11 6617769 stop gained G/C snv 0.700 0
dbSNP: rs794729218
rs794729218
CLN5 ; FBXL3
1 1.000 0.120 13 76995933 frameshift variant G/- del 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: 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: rs386833645
rs386833645
PPT1
2 0.925 0.120 1 40097236 start lost C/T snv 1.4E-05 0.700 1.000 5 1998 2007
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: 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: 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: 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: 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: 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: rs786204644
rs786204644
CLN5 ; FBXL3
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 2 1998 2012