Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201958741
rs201958741
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		T 0.700 GeneticVariation CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152

2014
dbSNP: rs201958741
rs201958741
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		T 0.700 GeneticVariation CLINVAR Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 10762170

2000