Disease: Retinal Diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1160535157
rs1160535157
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0035309
Disease:
Retinal Diseases 		0.010 GeneticVariation BEFREE Eye examinations confirmed the presence of retinopathy in the 2 boys and their maternal aunt, obligate carrier for the S157X mutation in LAMP2. 17296900 2007