Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908195
rs121908195
TPP1
1.000 0.120 11 6618776 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 1.000 8 1997 2016
dbSNP: rs119455954
rs119455954
TPP1
0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 1.000 6 1997 2012
dbSNP: rs121908202
rs121908202
TPP1
0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 1.000 6 1997 2013
dbSNP: rs121908204
rs121908204
TPP1
1.000 0.120 11 6617626 missense variant C/A;T snv 1.2E-05
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 1.000 5 1997 2012
dbSNP: rs121908205
rs121908205
TPP1
1.000 0.120 11 6617057 missense variant G/A snv
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 1.000 5 1997 2012
dbSNP: rs121908200
rs121908200
TPP1
0.925 0.120 11 6615442 missense variant C/G snv 2.0E-05 2.1E-05
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 1.000 0 1997 2012
dbSNP: rs28940573
rs28940573
TPP1
1.000 0.120 11 6617046 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 1.000 0 1997 2012
dbSNP: rs398122959
rs398122959
TPP1
0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		0.800 1.000 0 2013 2013
dbSNP: rs765380155
rs765380155
TPP1
0.925 0.120 11 6616374 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 0
dbSNP: rs119455955
rs119455955
TPP1
0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.710 1.000 9 1997 2017
dbSNP: rs56144125
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 8 1997 2013
dbSNP: rs119455957
rs119455957
TPP1
0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 6 2001 2012
dbSNP: rs56144125
rs56144125
TPP1
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 6 1997 2013
dbSNP: rs119455955
rs119455955
TPP1
0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 5 1997 2013
dbSNP: rs119455958
rs119455958
TPP1
1.000 0.120 11 6616690 missense variant T/C snv 4.0E-06
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 5 2002 2012
dbSNP: rs121908202
rs121908202
TPP1
0.925 0.120 11 6615172 missense variant G/A snv 2.4E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 4 1999 2013
dbSNP: rs202189057
rs202189057
TPP1
0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 4 2009 2016
dbSNP: rs202189057
rs202189057
TPP1
0.925 0.120 11 6617695 stop gained A/T snv 4.0E-06
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 4 2008 2013
dbSNP: rs750428882
rs750428882
TPP1
1.000 0.120 11 6616375 missense variant G/A;C snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 4 2009 2013
dbSNP: rs786204553
rs786204553
TPP1
1.000 0.120 11 6614865 splice donor variant C/A;G;T snv
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 4 2011 2015
dbSNP: rs119455954
rs119455954
TPP1
0.925 0.120 11 6616056 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 3 1998 2015
dbSNP: rs786204753
rs786204753
TPP1
0.925 0.120 11 6615217 stop gained C/T snv
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 3 2001 2012
dbSNP: rs1554902052
rs1554902052
TPP1
0.925 0.120 11 6617430 splice acceptor variant T/C snv
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 2 2001 2015
dbSNP: rs1554902052
rs1554902052
TPP1
0.925 0.120 11 6617430 splice acceptor variant T/C snv
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.700 1.000 2 2001 2015
dbSNP: rs752164603
rs752164603
TPP1
1.000 0.120 11 6617022 stop gained G/A snv 4.0E-06
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 1.000 2 2012 2012