Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
C 0.820 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557

2005

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. 7738200

1995

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041

1999

dbSNP: rs137854461
rs137854461
C 0.820 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007

dbSNP: rs137854461
rs137854461
C 0.820 GeneticVariation CLINVAR

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935

2007

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation BEFREE We have also investigated the effect of defective calcium binding to cbEGF32 on fibrillin-1 produced by N2144S MFS fibroblasts. 9887276

1999

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT A new missense mutation of fibrillin in a patient with Marfan syndrome. 8071963

1994

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. 9254848

1997

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497

1993

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 7870075

1994

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009

dbSNP: rs137854461
rs137854461
C 0.820 CausalMutation CLINVAR Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557

2005

dbSNP: rs137854461
rs137854461
C 0.820 CausalMutation CLINVAR A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. 8504310

1993

dbSNP: rs137854461
rs137854461
C 0.820 CausalMutation CLINVAR An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of secretion, processing, or deposition of reducible fibrillin-1 into the ECM. 11829507

2002

dbSNP: rs137854461
rs137854461
0.820 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: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377

2013

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. 8909500

1996

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917

2004