Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515818
rs397515818
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta. 20699357

2010
dbSNP: rs397515818
rs397515818
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004
dbSNP: rs397515818
rs397515818
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999
dbSNP: rs397515818
rs397515818
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 GeneticVariation CLINVAR Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene. 9016526

1997