Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200309328
rs200309328
A 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs200309328
rs200309328
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: rs200309328
rs200309328
A 0.700 CausalMutation CLINVAR Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. 19839986

2009

dbSNP: rs200309328
rs200309328
A 0.700 CausalMutation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008

dbSNP: rs200309328
rs200309328
A 0.700 CausalMutation CLINVAR [Two gene mutations in fibrillin 1 of Marfan syndrome]. 17680538

2007

dbSNP: rs200309328
rs200309328
A 0.700 CausalMutation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004