Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 CausalMutation CLINVAR FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. 28973303

2017
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 CausalMutation CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469

2010
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 CausalMutation CLINVAR Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. 19161152

2009
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 CausalMutation CLINVAR Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. 19839986

2009
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 GeneticVariation CLINVAR