Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801175
rs1801175
G6PC
T 0.710 CausalMutation CLINVAR Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959

2004
dbSNP: rs1801175
rs1801175
G6PC
T 0.710 CausalMutation CLINVAR Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. 8211187

1993
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. 28433475

2017
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017
dbSNP: rs747610090
rs747610090
GAA
A 0.700 GeneticVariation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017
dbSNP: rs747610090
rs747610090
GAA
A 0.700 GeneticVariation CLINVAR Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. 28433475

2017
dbSNP: rs12118058
rs12118058
AGL
T 0.700 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report. 27099502

2016
dbSNP: rs12118058
rs12118058
AGL
T 0.700 GeneticVariation CLINVAR A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. 25602008

2015
dbSNP: rs386834236
rs386834236
GAA
G 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs386834236
rs386834236
GAA
G 0.700 CausalMutation CLINVAR Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. 26231297

2015
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. 25526786

2014
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience. 25093132

2014
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease. 24444888

2014
dbSNP: rs386834236
rs386834236
GAA
G 0.700 CausalMutation CLINVAR The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. 24008051

2014
dbSNP: rs386834236
rs386834236
GAA
G 0.700 CausalMutation CLINVAR Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents. 24150945

2014
dbSNP: rs747610090
rs747610090
GAA
A 0.700 GeneticVariation CLINVAR Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. 25526786

2014
dbSNP: rs747610090
rs747610090
GAA
A 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. 25213570

2014
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. 23430493

2013
dbSNP: rs747610090
rs747610090
GAA
A 0.700 GeneticVariation CLINVAR Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients. 23884227

2013
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Rapid progressive course of later-onset Pompe disease in Chinese patients. 21757382

2011
dbSNP: rs1800312
rs1800312
GAA
C 0.700 CausalMutation CLINVAR Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. 21232767

2011
dbSNP: rs386834236
rs386834236
GAA
G 0.700 CausalMutation CLINVAR Pompe disease: design, methodology, and early findings from the Pompe Registry. 21439876

2011
dbSNP: rs747610090
rs747610090
GAA
A 0.700 GeneticVariation CLINVAR Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. 21471980

2011
dbSNP: rs121918419
rs121918419
GYS2
A 0.700 GeneticVariation CLINVAR A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. 20051115

2010