rs1566892727, FBN1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
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
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 CausalMutation CLINVAR Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. 16835936 2006
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
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