rs137854475, FBN1

N. diseases: 3
Disease: Arachnodactyly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
0.010 GeneticVariation BEFREE We have identified a novel missense mutation in exon 28 of the FBN1 gene (R1170H) which is responsible for an atypical marfanoid phenotype characterised by dolichostenomelia and arachnodactyly. 7870075 1994