Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515782
rs397515782
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 0.700 GeneticVariation CLINVAR Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009
dbSNP: rs397515782
rs397515782
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 GeneticVariation CLINVAR Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009
dbSNP: rs397515782
rs397515782
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		T 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: rs397515782
rs397515782
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		A 0.700 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999