Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907936
rs121907936
GAA
C 0.810 GeneticVariation CLINVAR Pompe disease in Austria: clinical, genetic and epidemiological aspects. 29181627

2018

dbSNP: rs121907936
rs121907936
GAA
C 0.810 GeneticVariation CLINVAR Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 29122469

2017

dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations. 28394184

2017

dbSNP: rs776948121
rs776948121
GAA
G 0.810 CausalMutation CLINVAR Novel GAA mutations in patients with Pompe disease. 25681614

2015

dbSNP: rs121907936
rs121907936
GAA
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs28940868
rs28940868
GAA
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease. 25026126

2014

dbSNP: rs757700700
rs757700700
GAA
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs776948121
rs776948121
GAA
0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014

dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. 23632174

2013

dbSNP: rs757700700
rs757700700
GAA
T 0.810 CausalMutation CLINVAR Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. 23632174

2013

dbSNP: rs757700700
rs757700700
GAA
T 0.810 CausalMutation CLINVAR Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 22081099

2012

dbSNP: rs776948121
rs776948121
GAA
G 0.810 CausalMutation CLINVAR Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients. 22658377

2012

dbSNP: rs121907936
rs121907936
GAA
C 0.810 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011

dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. 21232767

2011

dbSNP: rs121907936
rs121907936
GAA
0.810 GeneticVariation UNIPROT Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 20080426

2010

dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease. 21039225

2010

dbSNP: rs28940868
rs28940868
GAA
0.810 GeneticVariation UNIPROT Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 20080426

2010

dbSNP: rs121907936
rs121907936
GAA
0.810 GeneticVariation UNIPROT Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009

dbSNP: rs28940868
rs28940868
GAA
0.810 GeneticVariation UNIPROT Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009

dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843

2009

dbSNP: rs776948121
rs776948121
GAA
G 0.810 GeneticVariation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009

dbSNP: rs776948121
rs776948121
GAA
G 0.810 CausalMutation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009

dbSNP: rs121907936
rs121907936
GAA
0.810 GeneticVariation UNIPROT Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781

2008

dbSNP: rs121907936
rs121907936
GAA
0.810 GeneticVariation UNIPROT Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008