Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140583
rs140583
A 0.700 CausalMutation CLINVAR Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. 26272055

2015

dbSNP: rs140583
rs140583
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: rs140583
rs140583
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: rs140583
rs140583
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: rs140583
rs140583
A 0.700 CausalMutation CLINVAR Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 10464652

1999

dbSNP: rs140583
rs140583
A 0.700 CausalMutation CLINVAR The funding crisis in biomedical research, Part I--Addressing the issue. 2005308

1991