Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751696703
rs751696703
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		A 0.700 GeneticVariation CLINVAR Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009