Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854464
rs137854464
0.800 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007

dbSNP: rs137854464
rs137854464
0.800 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002

dbSNP: rs137854464
rs137854464
0.800 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002

dbSNP: rs137854464
rs137854464
0.800 GeneticVariation UNIPROT 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: rs137854464
rs137854464
0.800 GeneticVariation UNIPROT A novel mutation of the fibrillin gene causing ectopia lentis. 8188302

1994

dbSNP: rs137854464
rs137854464
T 0.800 CausalMutation CLINVAR