Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 21542060

2011
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 CausalMutation CLINVAR Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. 10930463

2000
dbSNP: rs140603
rs140603
FBN1
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		C 0.800 GeneticVariation CLINVAR