Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880289
rs730880289
DES
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		T 0.700 CausalMutation CLINVAR A dysfunctional desmin mutation in a patient with severe generalized myopathy. 9736733

1998