Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501055
rs1060501055
C 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

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

1987

dbSNP: rs1060501055
rs1060501055
C 0.700 GeneticVariation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973

dbSNP: rs1060501073
rs1060501073
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501087
rs1060501087
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501984
rs1060501984
T 0.700 GeneticVariation CLINVAR

dbSNP: rs112196241
rs112196241
C 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: rs112196241
rs112196241
C 0.700 GeneticVariation CLINVAR Fibrillin-1 misfolding and disease. 16677079

2006

dbSNP: rs112196241
rs112196241
C 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: rs112196241
rs112196241
C 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006

dbSNP: rs112196241
rs112196241
C 0.700 GeneticVariation CLINVAR Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917

2004

dbSNP: rs112196241
rs112196241
C 0.700 GeneticVariation CLINVAR Epidermal growth factor. Location of disulfide bonds. 4750422

1973

dbSNP: rs112901682
rs112901682
A 0.700 GeneticVariation CLINVAR

dbSNP: rs112907302
rs112907302
A 0.700 GeneticVariation CLINVAR

dbSNP: rs112989722
rs112989722
C 0.700 GeneticVariation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007

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

2008

dbSNP: rs112989722
rs112989722
C 0.700 GeneticVariation CLINVAR hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. 17884807

2007

dbSNP: rs112989722
rs112989722
C 0.700 GeneticVariation 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
C 0.700 GeneticVariation 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
C 0.700 GeneticVariation CLINVAR Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome. 9241263

1997

dbSNP: rs112989722
rs112989722
C 0.700 GeneticVariation CLINVAR Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases. 17224687

2007

dbSNP: rs113080385
rs113080385
C 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: rs113080385
rs113080385
C 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016