Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1271031981
rs1271031981
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878677
Disease:
Glycogen Storage Disease Type IIb
T 0.700 CausalMutation CLINVAR Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. 15889279 2005