FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Aortic Aneurysm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10519177
rs10519177
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003486
Disease:
Aortic Aneurysm 		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
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0003486
Disease:
Aortic Aneurysm 		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