rs137854464, FBN1

N. diseases: 5
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 Introduction of a single ectopia lentis-causing amino acid substitution (E2447K; one-letter symbols for amino acids) in a calcium-binding epidermal growth factor-like domain, predicted to disrupt calcium binding, markedly altered the pattern of C-terminal fibrillin-1 degradation. 10229672 1999