Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112645512
rs112645512
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs112907302
rs112907302
FBN1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs112989722
rs112989722
FBN1
A 0.700 CausalMutation CLINVAR FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 18435798

2008
dbSNP: rs112989722
rs112989722
FBN1
A 0.700 CausalMutation CLINVAR hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. 17884807

2007
dbSNP: rs112989722
rs112989722
FBN1
A 0.700 CausalMutation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940

2006
dbSNP: rs112989722
rs112989722
FBN1
A 0.700 CausalMutation CLINVAR Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. 19720936

2009
dbSNP: rs112989722
rs112989722
FBN1
A 0.700 CausalMutation CLINVAR Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. 17224687

2007
dbSNP: rs112989722
rs112989722
FBN1
A 0.700 CausalMutation CLINVAR Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. 9241263

1997
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome. 27112580

2016
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. 11139245

2001
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377

2013
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: role of dural ectasia for the diagnosis. 23684891

2013
dbSNP: rs113001196
rs113001196
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: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome. 29357934

2018
dbSNP: rs113249837
rs113249837
FBN1
A 0.700 CausalMutation CLINVAR Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009
dbSNP: rs113249837
rs113249837
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: rs113249837
rs113249837
FBN1
A 0.700 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005
dbSNP: rs113249837
rs113249837
FBN1
A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs113249837
rs113249837
FBN1
A 0.700 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016
dbSNP: rs113249837
rs113249837
FBN1
A 0.700 CausalMutation CLINVAR Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. 16835936

2006
dbSNP: rs113812345
rs113812345
FBN1
A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs113812345
rs113812345
FBN1
A 0.700 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005
dbSNP: rs113812345
rs113812345
FBN1
A 0.700 CausalMutation CLINVAR Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome. 27234404

2016
dbSNP: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. 19618372

2009
dbSNP: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952

2011