rs137854468, FBN1

N. diseases: 6
Disease: Connective Tissue Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Connective Tissue Diseases
CUI: C0009782
Disease: Connective Tissue Diseases
0.010 GeneticVariation BEFREE A missense mutation that changes a highly conserved glycine to serine (G1127S) has been identified in cbEGF13, which results in a variant of Marfan syndrome, a connective tissue disease. 11278305 2001