Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs363815
rs363815
FBN1
0.800 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs363815
rs363815
FBN1
0.800 GeneticVariation UNIPROT Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. 7951214

1994
dbSNP: rs363815
rs363815
FBN1
0.800 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002
dbSNP: rs363815
rs363815
FBN1
0.800 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs363815
rs363815
FBN1
0.800 GeneticVariation UNIPROT The revised Ghent nosology for the Marfan syndrome. 20591885

2010
dbSNP: rs363815
rs363815
FBN1
0.800 GeneticVariation UNIPROT Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. 8004112

1994