Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854476
rs137854476
A 0.700 CausalMutation CLINVAR Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome. 27175573

2016

dbSNP: rs137854476
rs137854476
A 0.700 CausalMutation CLINVAR Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 17663468

2007

dbSNP: rs137854476
rs137854476
A 0.700 CausalMutation CLINVAR Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. 9837823

1998