rs397515818, FBN1

N. diseases: 1
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 GeneticVariation CLINVAR Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta. 20699357 2010
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540 2004
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319 1999
Marfan Syndrome
CUI: C0024796
Disease: Marfan Syndrome
0.700 GeneticVariation CLINVAR Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene. 9016526 1997