Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs25403
rs25403
FBN1
A 0.700 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs25403
rs25403
FBN1
A 0.700 CausalMutation CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730

2015
dbSNP: rs25403
rs25403
FBN1
A 0.700 CausalMutation CLINVAR Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis. 25053872

2014
dbSNP: rs25403
rs25403
FBN1
A 0.700 CausalMutation CLINVAR Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1). 22950452

2013
dbSNP: rs25403
rs25403
FBN1
A 0.700 CausalMutation CLINVAR Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. 16765689

2006
dbSNP: rs25403
rs25403
FBN1
A 0.700 CausalMutation CLINVAR Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs25403
rs25403
FBN1
A 0.700 CausalMutation CLINVAR TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002