Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045715
rs797045715
MTM1
C 0.700 CausalMutation CLINVAR Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. 10063835

1999
dbSNP: rs797045715
rs797045715
MTM1
C 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