Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61130669
rs61130669
DES
0.020 GeneticVariation BEFREE Based on these results, we suggest that p.D399Y-related myofibrillar myopathy is at least partly due to altered mechanical properties at the single-cell scale, which are propagated to the tissue scale. 28793217

2017

dbSNP: rs61130669
rs61130669
DES
0.020 GeneticVariation BEFREE Here, we analyse myoblasts behaviour in the context of myofibrillar myopathy resulting from p.D399Y desmin mutation which disorganizes the desmin IF network in muscle cells. 23234811

2013