Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs10757278
rs10757278
CDKN2B-AS1
0.010 GeneticVariation BEFREE Significantly reduced expression of all INK4/ARF transcripts (p15(INK4b), p16(INK4a), ARF and ANRIL) was found in PBTL of individuals harboring a common SNP (rs10757278) associated with increased risk of coronary artery disease, stroke and aortic aneurysm. 19343170

2009
dbSNP: rs113358395
rs113358395
COQ8B
0.010 GeneticVariation BEFREE A rare missense variant in ADCK4 (p.Arg63Trp) segregated with mild TAA in each family. 28550590

2017
dbSNP: rs12191786
rs12191786
CASC15
0.010 GeneticVariation BEFREE Our aim was to determine the association of Arg753Gln (rs5743708) and Arg677Trp (rs12191786) polymorphisms of toll like receptor-2 gene with the two clinical forms of apical periodontitis: acute apical abscess (AAA) and asymptomatic apical periodontitis (AAP). 29854884

2018
dbSNP: rs121917864
rs121917864
TLR2
0.010 GeneticVariation BEFREE The frequency of mutant allele (T)</span> of Arg677Trp polymorphism was higher in AAA</span> (14%) than AAP (7%) subjects (OR=1.7, 95% CI: 0.6-4.7). 29854884

2018
dbSNP: rs1343555503
rs1343555503
SMAD4
0.010 GeneticVariation BEFREE In this study, we functionally characterized the Smad4 S271N mutation (the mutation c. 812G>A in Smad4 results in the amino acid substitution Ser271Asn) that was isolated from TAA individuals. 28716708

2017
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
dbSNP: rs1465567
rs1465567
EGFLAM
0.010 GeneticVariation BEFREE Examination of the correlation of these latter 8 SNPs to true or dissecting aortic aneurysm separately showed that rs1465567 [T/C (W229R)] of the EGF-like, fibronectin type III, and laminin G domains gene (EGFLAM) (dominant model; P=0.0014; odds ratio, 1.63) was significantly (P<0.0016) associated with true aortic aneurysm. 28339009

2017
dbSNP: rs191645600
rs191645600
NOTCH1
0.010 GeneticVariation BEFREE Of these, 2 novel missense mutations, A1343V and P1390T, were observed only in patients with bicuspid aortic valves and tricuspid aortic aneurysms. 17662764

2007
dbSNP: rs2043211
rs2043211
CARD8
0.010 GeneticVariation BEFREE AAA patients (n=1151) and controls (n=727) were genotyped for CARD8 SNP rs2043211 and NLRP3 SNP rs35829419 using TaqMan SNP assays. 21621776

2011
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: rs5516
rs5516
KLK1
0.010 GeneticVariation BEFREE The KLK1 rs5516 G allele is closely associated with AA, and the ACE D allele is closely related to AA and AS. 27858843

2016
dbSNP: rs5743708
rs5743708
TLR2
0.010 GeneticVariation BEFREE Variant allele (A) of Arg7</span>53Gln polymorphism was identified in 2% of AAA, while no individual represented with this allele in AAP subjects. 29854884

2018
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: rs900
rs900
TGFB2 ; TGFB2-OT1
0.010 GeneticVariation BEFREE The most relevant finding obtained allows us to propose that rs900 TGF-β2 SNP is associated with sporadic TAA in women. 24707114

2014
dbSNP: rs137854466
rs137854466
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs727503054
rs727503054
FBN1
G 0.700 CausalMutation CLINVAR