rs369758958, OBSCN

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
0.010 GeneticVariation BEFREE On this line, we suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family. 29073160 2017