Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140630
rs140630
A 0.700 CausalMutation CLINVAR Detection of 15 novel mutations in 52 children from 40 families with the Marfan or Loeys-Dietz syndrome and phenotype-genotype correlations. 24199744

2014

dbSNP: rs140630
rs140630
A 0.700 CausalMutation CLINVAR Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. 19159394

2009

dbSNP: rs140630
rs140630
A 0.700 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005

dbSNP: rs140630
rs140630
A 0.700 CausalMutation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004

dbSNP: rs140630
rs140630
A 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001