Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515848
rs397515848
A 0.700 CausalMutation CLINVAR Molecular analysis of eight mutations in FBN1. 10647894

1999

dbSNP: rs397515848
rs397515848
A 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010

dbSNP: rs397515848
rs397515848
A 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015

dbSNP: rs397515848
rs397515848
A 0.700 CausalMutation CLINVAR Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients. 27724990

2016