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: rs587776892
rs587776892
DNAJC5
2 0.925 0.120 20 63930871 inframe deletion CTC/- delins 0.700 1.000 5 2011 2013
dbSNP: rs121908080
rs121908080
CLN6
2 0.925 0.120 15 68211698 inframe deletion ATG/- delins 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: 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: rs386833698
rs386833698
CLN3
2 0.925 0.120 16 28482102 splice region variant T/G snv 0.700 1.000 1 2014 2014
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: rs1564855725
rs1564855725
TPP1
5 0.882 0.160 11 6617621 splice region variant C/T snv 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: 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: rs1554902052
rs1554902052
TPP1
2 0.925 0.120 11 6617430 splice acceptor variant T/C snv 0.700 1.000 2 2001 2015
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
2 0.925 0.120 13 77000824 frameshift variant T/- delins 0.700 1.000 6 1998 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: 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: rs786204644
rs786204644
CLN5 ; FBXL3
2 0.925 0.120 13 77000667 frameshift variant AT/- delins 0.700 1.000 2 1998 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: rs1554902216
rs1554902216
TPP1
2 0.925 0.120 11 6618820 frameshift variant AG/- delins 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: 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: rs386833732
rs386833732
CLN3
2 0.925 0.120 16 28486455 frameshift variant C/-;CC delins 0.700 0
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: rs386833740
rs386833740
CLN3
2 0.925 0.120 16 28482344 frameshift variant -/T delins 3.2E-05; 4.0E-06 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: rs774543080
rs774543080
CLN6
2 0.925 0.120 15 68211765 frameshift variant AG/- delins 8.0E-06 0.700 0