Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204644
rs786204644
CLN5 ; FBXL3
A 0.700 GeneticVariation CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218

2012
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833975
rs386833975
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833976
rs386833976
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833977
rs386833977
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833978
rs386833978
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833981
rs386833981
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
0.700 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833971
rs386833971
CLN5 ; FBXL3
T 0.700 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833972
rs386833972
CLN5 ; FBXL3
G 0.700 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
AC 0.700 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
A 0.700 GeneticVariation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs386833975
rs386833975
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs386833976
rs386833976
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs386833977
rs386833977
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs386833978
rs386833978
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs386833981
rs386833981
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
0.700 GeneticVariation UNIPROT Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. 16814585

2006
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
0.810 GeneticVariation UNIPROT Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
0.800 GeneticVariation UNIPROT Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013