Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555401687
rs1555401687
FBN1
A 0.700 CausalMutation CLINVAR Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. 25652356

2015
dbSNP: rs1555401687
rs1555401687
FBN1
A 0.700 CausalMutation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009
dbSNP: rs1555401687
rs1555401687
FBN1
A 0.700 CausalMutation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009
dbSNP: rs1555401687
rs1555401687
FBN1
A 0.700 CausalMutation CLINVAR The spectrum of syndromes and manifestations in individuals screened for suspected Marfan syndrome. 19012347

2008
dbSNP: rs1555401687
rs1555401687
FBN1
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: rs1555401687
rs1555401687
FBN1
A 0.700 CausalMutation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006
dbSNP: rs1555401687
rs1555401687
FBN1
A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs1555401687
rs1555401687
FBN1
T 0.700 GeneticVariation CLINVAR