GBE1, 1,4-alpha-glucan branching enzyme 1, 2632

N. diseases: 11; N. variants: 25
Disease: GSD IV, Neuromuscular Form, Childhood ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852888
rs137852888 		0.882 0.120 3 81577973 stop gained G/A;C snv 3.7E-05 5.6E-05
CUI: C1856305
Disease: GSD IV, Neuromuscular Form, Childhood
GSD IV, Neuromuscular Form, Childhood 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0