rs730880099, FBN1

N. diseases: 11
Disease: Ectopia Lentis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ectopia Lentis
CUI: C0013581
Disease: Ectopia Lentis
0.010 GeneticVariation BEFREE She had no systemic characteristics of Marfan syndrome, however she exhibited a mutation of FBN1, Arg 545 Cys, which has been found to correlate with ectopia lentis but not with aortic dissection. 23719250 2013