Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052480459
rs1052480459
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057521102
rs1057521102
FBN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501023
rs1060501023
FBN1
A 0.700 CausalMutation CLINVAR Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299

1995
dbSNP: rs1060501036
rs1060501036
FBN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501073
rs1060501073
FBN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501082
rs1060501082
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs111231312
rs111231312
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 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: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 17663468

2007
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 17679947

2007
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. 17627385

2007
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR 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: rs111401431
rs111401431
FBN1
A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs111401431
rs111401431
FBN1
A 0.700 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: rs111687884
rs111687884
FBN1
A 0.700 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: rs111687884
rs111687884
FBN1
A 0.700 CausalMutation CLINVAR Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. 11139245

2001
dbSNP: rs111687884
rs111687884
FBN1
A 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs111687884
rs111687884
FBN1
A 0.700 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs112550005
rs112550005
FBN1
A 0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580

2016
dbSNP: rs112550005
rs112550005
FBN1
A 0.700 CausalMutation CLINVAR Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002