Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772194378
rs772194378
PYGM
C 0.700 CausalMutation CLINVAR PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease? 25240406

2014
dbSNP: rs772194378
rs772194378
PYGM
C 0.700 CausalMutation CLINVAR Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. 17994553

2008
dbSNP: rs772194378
rs772194378
PYGM
C 0.700 CausalMutation CLINVAR Novel mutation in the PYGM gene resulting in McArdle disease. 17172620

2006