Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs527236146
rs527236146
PYGM
T 0.700 GeneticVariation CLINVAR Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. 17994553

2008
dbSNP: rs527236146
rs527236146
PYGM
T 0.700 GeneticVariation CLINVAR Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations. 17404776

2007
dbSNP: rs527236146
rs527236146
PYGM
T 0.700 GeneticVariation CLINVAR Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. 14748827

2004
dbSNP: rs527236146
rs527236146
PYGM
T 0.700 CausalMutation CLINVAR Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease. 14748827

2004
dbSNP: rs527236146
rs527236146
PYGM
T 0.700 CausalMutation CLINVAR Two novel mutations in the myophosphorylase gene in a patient with McArdle disease. 12508303

2003
dbSNP: rs527236146
rs527236146
PYGM
T 0.700 GeneticVariation CLINVAR Two novel mutations in the myophosphorylase gene in a patient with McArdle disease. 12508303

2003