Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515757
rs397515757
FBN1
T 0.700 CausalMutation CLINVAR Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 25907466

2015
dbSNP: rs397515757
rs397515757
FBN1
T 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
dbSNP: rs397515757
rs397515757
FBN1
T 0.700 CausalMutation CLINVAR Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. 21907952

2011
dbSNP: rs397515757
rs397515757
FBN1
T 0.700 CausalMutation CLINVAR Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. 17627385

2007
dbSNP: rs397515757
rs397515757
FBN1
T 0.700 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs397515757
rs397515757
FBN1
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: rs397515757
rs397515757
FBN1
T 0.700 GeneticVariation CLINVAR