Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140593
rs140593
T 0.700 CausalMutation CLINVAR Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. 21784848

2011

dbSNP: rs140593
rs140593
T 0.700 CausalMutation CLINVAR Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. 19002209

2009

dbSNP: rs140593
rs140593
T 0.700 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: rs140593
rs140593
T 0.700 CausalMutation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004

dbSNP: rs140593
rs140593
T 0.700 CausalMutation CLINVAR Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. 11175294

2001

dbSNP: rs140593
rs140593
T 0.700 CausalMutation CLINVAR Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome. 11780406

2001

dbSNP: rs140593
rs140593
T 0.700 CausalMutation 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: rs140593
rs140593
T 0.700 CausalMutation CLINVAR Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 10464652

1999

dbSNP: rs140593
rs140593
T 0.700 CausalMutation CLINVAR Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299

1995