Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854476
rs137854476
FBN1
A 0.700 CausalMutation CLINVAR Using targeted semiconductor sequencing, two pathogenic mutations in four MFS patients of the two pedigrees were identified, including a novel frameshift insertion, p.G2120fsX2160, and a reported nonsense mutation, p.Arg529X (rs137854476), in the FBN1 gene. 27175573

2016
dbSNP: rs137854476
rs137854476
FBN1
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
FBN1
A 0.700 CausalMutation CLINVAR Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. 9837823

1998