Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515845
rs397515845
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 17663468

2007
dbSNP: rs397515845
rs397515845
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs397515845
rs397515845
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006