Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 17679947

2007

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. 17627385

2007

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 17663468

2007

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004

dbSNP: rs111401431
rs111401431
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

dbSNP: rs111401431
rs111401431
A 0.700 CausalMutation CLINVAR Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. 10930463

2000