Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727502871
rs727502871
GYG1
T 0.700 CausalMutation CLINVAR Polyglucosan myopathy and functional characterization of a novel GYG1 mutation. 29143313

2018
dbSNP: rs727502871
rs727502871
GYG1
T 0.700 CausalMutation CLINVAR Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle. 28453664

2017
dbSNP: rs727502871
rs727502871
GYG1
T 0.700 CausalMutation CLINVAR Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. 29264399

2017
dbSNP: rs727502871
rs727502871
GYG1
T 0.700 CausalMutation CLINVAR Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282

2010