rs28933093, LMNA

N. diseases: 3
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.810 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062 2003
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.010 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062 2003
Myopathy
CUI: C0026848
Disease: Myopathy
0.010 GeneticVariation BEFREE A new missense (E161K) mutation was identified in a family with early atrial fibrillation and a previously described (R377H) mutation in another family with a quadriceps myopathy associated with DCM. 12920062 2003