rs1800309, GAA

N. diseases: 3
Disease: Becker Muscular Dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Becker Muscular Dystrophy
CUI: C0917713
Disease: Becker Muscular Dystrophy
0.010 GeneticVariation BEFREE The boy was diagnosed with BMD, despite remarkable reduction in GAA activity; further, he demonstrated heterozygosity for [p.Gly576Ser; p.Glu689Lys] polymorphism variants that indicated pseudodeficiency on another allele in GAA. 29778277 2018