Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113249837
rs113249837
A 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs113249837
rs113249837
A 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010

dbSNP: rs113249837
rs113249837
A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009

dbSNP: rs113249837
rs113249837
A 0.700 CausalMutation CLINVAR Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009

dbSNP: rs113249837
rs113249837
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: rs113249837
rs113249837
A 0.700 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005