Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994131
rs113994131
AGL
CUI: C1968739
Disease: Glycogen Storage Disease IIIA
Glycogen Storage Disease IIIA 		0.010 GeneticVariation BEFREE The R864X and R1228X were not unique for GSD-IIIb as they were also found in GSD-IIIa patients (frequency of 10.3% and 5.2% in Caucasian patients, respectively). 8755644

1996