RS137852892 GBE1
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What This Variant Does
"[OMIM:?]
Associated Conditions
Glycogen storage disease due to glycogen branching enzyme deficiency
congenital neuromuscular form
Glycogen storage disease
type IV
Glycogen storage disease IV
classic hepatic
GBE1-related disorder
Adult polyglucosan body disease
Glycogen storage disease due to glycogen branching enzyme deficiency
congenital neuromuscular form
Glycogen storage disease
type IV
Glycogen storage disease IV
classic hepatic
GBE1-related disorder
Other Variants in GBE1