Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434591
rs121434591
MATR3
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		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
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		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
dbSNP: rs121434591
rs121434591
MATR3
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.010 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
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.010 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
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.010 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