Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1052480459
rs1052480459
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1052480459
rs1052480459
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518881
rs1057518881
T 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs1057518881
rs1057518881
T 0.700 GeneticVariation 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: rs1057518881
rs1057518881
T 0.700 GeneticVariation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017

dbSNP: rs1057518881
rs1057518881
T 0.700 GeneticVariation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006

dbSNP: rs1057518881
rs1057518881
T 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016

dbSNP: rs1057518881
rs1057518881
T 0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. 24501682

2013

dbSNP: rs1057518881
rs1057518881
T 0.700 GeneticVariation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009

dbSNP: rs1057518912
rs1057518912
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519320
rs1057519320
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519502
rs1057519502
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057520131
rs1057520131
0.010 GeneticVariation BEFREE A C596G mutation in FBN1 was identified in a Chinese family with MFS. 25729264

2015

dbSNP: rs1057520617
rs1057520617
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057520728
rs1057520728
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057521102
rs1057521102
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057521102
rs1057521102
T 0.700 CausalMutation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009

dbSNP: rs1057521102
rs1057521102
T 0.700 CausalMutation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009

dbSNP: rs1057521102
rs1057521102
T 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs1057521102
rs1057521102
T 0.700 CausalMutation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006

dbSNP: rs1057521102
rs1057521102
T 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: rs1057521102
rs1057521102
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057523406
rs1057523406
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057524458
rs1057524458
G 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: rs1057524458
rs1057524458
G 0.700 CausalMutation CLINVAR FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016