Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993956
rs113993956
T 0.800 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015

dbSNP: rs113993956
rs113993956
T 0.800 CausalMutation CLINVAR A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 21480433

2011

dbSNP: rs113993956
rs113993956
0.800 GeneticVariation UNIPROT