Gene: FBN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
FBN1
C 0.820 GeneticVariation CLINVAR

dbSNP: rs137854467
rs137854467
FBN1
A 0.810 GeneticVariation CLINVAR

dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains. 19802897

2010
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine. 952872

1976
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551

1995
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
dbSNP: rs137854478
rs137854478
FBN1
T 0.810 GeneticVariation CLINVAR

dbSNP: rs111401431
rs111401431
FBN1
A 0.800 GeneticVariation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 GeneticVariation 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 0.800 GeneticVariation 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 0.800 GeneticVariation CLINVAR Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 GeneticVariation CLINVAR Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 17679947

2007
dbSNP: rs111588631
rs111588631
FBN1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs111929350
rs111929350
FBN1
T 0.800 GeneticVariation CLINVAR Molecular analysis of eight mutations in FBN1. 10647894

1999
dbSNP: rs111929350
rs111929350
FBN1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs111929350
rs111929350
FBN1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs111929350
rs111929350
FBN1
T 0.800 GeneticVariation 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: rs111984349
rs111984349
FBN1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs112375043
rs112375043
FBN1
C 0.800 GeneticVariation CLINVAR

dbSNP: rs112660651
rs112660651
FBN1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs112660651
rs112660651
FBN1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs137854457
rs137854457
FBN1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs137854471
rs137854471
FBN1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs137854480
rs137854480
FBN1
A 0.800 GeneticVariation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019