FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Dissection of aorta ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518809
rs1057518809
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518973
rs1057518973
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs137854466
rs137854466
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137854467
rs137854467
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		A 0.700 CausalMutation CLINVAR
dbSNP: rs727503057
rs727503057
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1036477
rs1036477
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		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: rs2118181
rs2118181
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		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
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		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
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		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: rs730880099
rs730880099
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
CUI: C0340643
Disease:
Dissection of aorta 		0.010 GeneticVariation BEFREE She had no systemic characteristics of Marfan syndrome, however she exhibited a mutation of FBN1, Arg 545 Cys, which has been found to correlate with ectopia lentis but not with aortic dissection. 23719250 2013