Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434591
rs121434591
MATR3
0.020 GeneticVariation BEFREE The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. 28029397

2017
dbSNP: rs121434591
rs121434591
MATR3
0.020 GeneticVariation BEFREE Sixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized. 25154462

2014