Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204723
rs786204723
PYGM
G 0.700 GeneticVariation CLINVAR Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. 22250184

2012
dbSNP: rs786204723
rs786204723
PYGM
G 0.700 GeneticVariation CLINVAR Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease? 19232494

2009
dbSNP: rs786204723
rs786204723
PYGM
G 0.700 GeneticVariation CLINVAR McArdle disease: another systemic low-inflammation disorder? 18162322

2008