Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143137713
rs143137713
GYG1
C 0.800 GeneticVariation CLINVAR Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 27718144

2017
dbSNP: rs143137713
rs143137713
GYG1
0.800 GeneticVariation UNIPROT A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951

2014
dbSNP: rs143137713
rs143137713
GYG1
C 0.800 GeneticVariation CLINVAR A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951

2014
dbSNP: rs143137713
rs143137713
GYG1
C 0.800 CausalMutation CLINVAR