Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
AC 0.700 GeneticVariation CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198

2000
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
AC 0.700 GeneticVariation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010
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