rs386833728, CLN3

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. 9932957 1999
Juvenile Neuronal Ceroid Lipofuscinosis
0.700 GeneticVariation CLINVAR