Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893809
rs104893809
T 0.700 GeneticVariation CLINVAR

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: 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 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 The molecular genetics of Marfan syndrome and related disorders. 16571647

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 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
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057523406
rs1057523406
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500771
rs1060500771
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501029
rs1060501029
C 0.700 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs1060501033
rs1060501033
G 0.700 GeneticVariation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015

dbSNP: rs1060501033
rs1060501033
G 0.700 GeneticVariation CLINVAR [Clinical and Genetic Characteristics of Russian Marfan Patients]. 26410935

2015

dbSNP: rs1060501033
rs1060501033
G 0.700 GeneticVariation CLINVAR Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. 19293843

2009

dbSNP: rs1060501036
rs1060501036
G 0.700 GeneticVariation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006

dbSNP: rs1060501036
rs1060501036
G 0.700 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999

dbSNP: rs1060501036
rs1060501036
G 0.700 GeneticVariation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987

dbSNP: rs1060501036
rs1060501036
G 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs1060501036
rs1060501036
G 0.700 GeneticVariation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973

dbSNP: rs1060501036
rs1060501036
G 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: rs1060501036
rs1060501036
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501055
rs1060501055
C 0.700 GeneticVariation CLINVAR Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. 10486319

1999

dbSNP: rs1060501055
rs1060501055
C 0.700 GeneticVariation CLINVAR Genotype impacts survival in Marfan syndrome. 26787436

2016

dbSNP: rs1060501055
rs1060501055
C 0.700 GeneticVariation CLINVAR The solution structure of human epidermal growth factor. 3495735

1987