Source: CLINVAR ×
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 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 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 Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003

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
C 0.820 CausalMutation CLINVAR A mutation causing an Asn-2144 --> Ser amino acid change in one of the potential calcium binding residues has been described in a patient with the Marfan syndrome. 7896820

1995

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 GeneticVariation CLINVAR

dbSNP: rs137854478
rs137854478
T 0.810 CausalMutation CLINVAR Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. 21784848

2011

dbSNP: rs137854468
rs137854468
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: rs137854478
rs137854478
T 0.810 CausalMutation CLINVAR Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1. 17324963

2007

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

2003

dbSNP: rs137854468
rs137854468
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
T 0.810 CausalMutation CLINVAR Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome. 10766875

2000

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

1976

dbSNP: rs137854462
rs137854462
A 0.810 CausalMutation CLINVAR

dbSNP: rs137854467
rs137854467
A 0.810 CausalMutation CLINVAR

dbSNP: rs137854467
rs137854467
A 0.810 GeneticVariation CLINVAR

dbSNP: rs137854478
rs137854478
T 0.810 GeneticVariation CLINVAR

dbSNP: rs137854480
rs137854480
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

dbSNP: rs137854471
rs137854471
T 0.800 CausalMutation CLINVAR An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death. 27893734

2017

dbSNP: rs111401431
rs111401431
A 0.800 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016

dbSNP: rs137854464
rs137854464
T 0.800 CausalMutation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs140592
rs140592
G 0.800 GeneticVariation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016

dbSNP: rs140603
rs140603
C 0.800 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016