Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728228
rs794728228
A 0.700 CausalMutation CLINVAR Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis. 23684891

2013

dbSNP: rs794728228
rs794728228
A 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007

dbSNP: rs794728228
rs794728228
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: rs794728228
rs794728228
A 0.700 CausalMutation CLINVAR Muscle fibrillin deficiency in Marfan's syndrome myopathy. 12700307

2003

dbSNP: rs794728228
rs794728228
A 0.700 CausalMutation CLINVAR Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene. 11933199

2002

dbSNP: rs794728228
rs794728228
A 0.700 CausalMutation CLINVAR Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. 12161601

2002

dbSNP: rs794728228
rs794728228
A 0.700 CausalMutation CLINVAR Molecular analysis of eight mutations in FBN1. 10647894

1999