Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566892727
rs1566892727
A 0.700 CausalMutation CLINVAR Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. 19161152

2009

dbSNP: rs1566892727
rs1566892727
A 0.700 CausalMutation CLINVAR Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. 16835936

2006

dbSNP: rs1566892727
rs1566892727
A 0.700 CausalMutation CLINVAR Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice. 12161601

2002