Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854466
rs137854466
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
G 0.700 CausalMutation CLINVAR

dbSNP: rs10519177
rs10519177
FBN1
0.020 GeneticVariation BEFREE Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms. 25583878

2015
dbSNP: rs2118181
rs2118181
FBN1
0.020 GeneticVariation BEFREE Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms. 25583878

2015
dbSNP: rs10519177
rs10519177
FBN1
0.020 GeneticVariation BEFREE We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37-5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36-5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study. 24743685

2014
dbSNP: rs2118181
rs2118181
FBN1
0.020 GeneticVariation BEFREE We did not find significant differences in aortic size, a potential confounder for TAD, between rs2118181 risk variant carriers and non-carriers: mean aortic size was 5.56 (95% CI: 5.37-5.73) for risk variant carriers (CC+CT) and was 5.48 (95% CI: 5.36-5.61) for noncarriers (TT) (p = 0.56). rs2118181 was not associated with TAA or TAAD. rs10519177 was not associated with TAD, TAA, or TAAD in the Yale study. 24743685

2014
dbSNP: rs1036477
rs1036477
FBN1
0.010 GeneticVariation BEFREE Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms. 25583878

2015
dbSNP: rs4774517
rs4774517
FBN1
0.010 GeneticVariation BEFREE Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms. 25583878

2015
dbSNP: rs755251
rs755251
FBN1
0.010 GeneticVariation BEFREE Our study provides evidence for the following: (i) FBN1 SNPs rs2118181, rs1036477, rs10519177, rs4774517, rs755251 may increase susceptibility to aortic dissections and (ii) FBN1 SNPs rs2118181, rs1036477 to the formation of aortic aneurysms. 25583878

2015
dbSNP: rs140598
rs140598
FBN1
0.010 GeneticVariation BEFREE The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing or predisposing to Marfan syndrome and aortic aneurysm, or clinically innocent? 9150726

1997