Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514677
rs397514677
STIM1
0.800 GeneticVariation UNIPROT 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation. 25953320

2015
dbSNP: rs397514677
rs397514677
STIM1
0.800 GeneticVariation UNIPROT Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. 24570283

2014
dbSNP: rs397514677
rs397514677
STIM1
0.800 GeneticVariation UNIPROT Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. 25326555

2014
dbSNP: rs397514677
rs397514677
STIM1
0.800 GeneticVariation UNIPROT Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. 23332920

2013
dbSNP: rs397514677
rs397514677
STIM1
G 0.800 CausalMutation CLINVAR