Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515766
rs397515766
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002
dbSNP: rs397515766
rs397515766
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		G 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
dbSNP: rs397515766
rs397515766
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 CausalMutation CLINVAR