Disease: Juvenile Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833728
rs386833728
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs386833728
rs386833728
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		G 0.700 GeneticVariation CLINVAR Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. 9932957 1999
dbSNP: rs386833728
rs386833728
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0751383
Disease:
Juvenile Neuronal Ceroid Lipofuscinosis 		T 0.700 GeneticVariation CLINVAR