Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123275
rs398123275
MTM1
T 0.700 CausalMutation CLINVAR Mutation studies in X-linked myotubular myopathy in three Indian families. 20358311

2010
dbSNP: rs398123275
rs398123275
MTM1
T 0.700 CausalMutation CLINVAR Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. 9305655

1997