Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140948465
rs140948465
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012

dbSNP: rs140948465
rs140948465
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: rs267607235
rs267607235
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: rs267607235
rs267607235
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012

dbSNP: rs749704755
rs749704755
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: rs749704755
rs749704755
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012

dbSNP: rs140948465
rs140948465
0.800 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009

dbSNP: rs140948465
rs140948465
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009

dbSNP: rs140948465
rs140948465
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009

dbSNP: rs140948465
rs140948465
0.800 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119

2009

dbSNP: rs267607235
rs267607235
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009

dbSNP: rs267607235
rs267607235
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009

dbSNP: rs267607235
rs267607235
0.800 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009

dbSNP: rs267607235
rs267607235
0.800 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119

2009

dbSNP: rs749704755
rs749704755
0.800 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009

dbSNP: rs749704755
rs749704755
0.800 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119

2009

dbSNP: rs749704755
rs749704755
0.800 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009

dbSNP: rs749704755
rs749704755
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009

dbSNP: rs140948465
rs140948465
0.800 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970

2007

dbSNP: rs267607235
rs267607235
0.800 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970

2007

dbSNP: rs749704755
rs749704755
0.800 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970

2007

dbSNP: rs118203978
rs118203978
0.800 GeneticVariation UNIPROT

dbSNP: rs118203978
rs118203978
C 0.800 CausalMutation CLINVAR

dbSNP: rs140948465
rs140948465
T 0.800 GeneticVariation CLINVAR

dbSNP: rs140948465
rs140948465
T 0.800 CausalMutation CLINVAR