rs397514558, FBN1

N. diseases: 4
Disease: Ectopia lentis isolated ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ectopia lentis isolated
CUI: C1851286
Disease: Ectopia lentis isolated
0.010 GeneticVariation BEFREE A novel mutation of FBN1 results in an arginine to cysteine residue (p.R974C) substitution, which is responsible for the patients with isolated EL in this Chinese family. 22539873 2012