Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377

2013
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. 19161152

2009
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. 12068374

2002
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR FBN1 exon 2 splicing error in a patient with Marfan syndrome. 11391655

2001
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome. 10721679

2000
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR Molecular analysis of eight mutations in FBN1. 10647894

1999
dbSNP: rs25404
rs25404
FBN1
T 0.700 CausalMutation CLINVAR Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497

1993