Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10455872
rs10455872
LPA
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.030 GeneticVariation BEFREE We genotyped the CAD-associated variants at the LPA (rs10455872) and 9p21 loci (rs1333049) in the GeneCAST (Genetics of Calcific Aortic STenosis) Consortium and conducted a meta-analysis for their association with AVS. 30482443

2019

dbSNP: rs10455872
rs10455872
LPA
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.030 GeneticVariation BEFREE Both LPA variants were associated with AS, with a per risk allele odds ratio of 1.34 (95% CI, 1.23-1.47; P = 1.7 × 10-10) for rs1</span>0455872 and 1.31 (95% CI, 1.09-1.58; P = 3.6 × 10-3) for rs3798220 after adjusting for age, age2, and sex. 29128868

2018

dbSNP: rs10455872
rs10455872
LPA
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.030 GeneticVariation BEFREE The rs10455872 variant, which is associated with higher lipoprotein(a) levels, is also associated with increased risk of AVS, suggesting that this association may be causal. 24704946

2014

dbSNP: rs1042031
rs1042031
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). 21855833

2011

dbSNP: rs11591147
rs11591147
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE PCSK9 R46L carriers have lower levels of lipoprotein(a) and LDL cholesterol as well as reduced risk of aortic valve stenosis and myocardial infarction. 27218270

2016

dbSNP: rs1205
rs1205
CRP
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE Association of the C-Reactive Protein Gene (CRP) rs1205 C>T Polymorphism with Aortic Valve Calcification in Patients with Aortic Stenosis. 26473826

2015

dbSNP: rs1333049
rs1333049
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE We genotyped the CAD-associated variants at the LPA (rs10455872) and 9p21 loci (rs1333049) in the GeneCAST (Genetics of Calcific Aortic STenosis) Consortium and conducted a meta-analysis for their association with AVS. 30482443

2019

dbSNP: rs1349963459
rs1349963459
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE In conclusion, we have found the association of the renalase Glu37Asp polymorphism with left ventricle hypertrophy in large group of females with aortic stenosis. 29065134

2017

dbSNP: rs1544410
rs1544410
VDR
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 polymorphism within the PTH gene, and rs1800871 polymorphism within the IL10 gene may be associated with aortic stenosis with low level of evidence. 24903972

2014

dbSNP: rs174547
rs174547
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE In the secondary analysis, the minor allele of rs174547 in <i>FADS1</i> was associated with significantly lower odds of any ischemic stroke, large-artery stroke, and venous thromboembolism and showed suggestive evidence of inverse association with coronary artery disease, abdominal aortic aneurysm and aortic valve stenosis. 31817859

2019

dbSNP: rs1800871
rs1800871
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 polymorphism within the PTH gene, and rs1800871 polymorphism within the IL10 gene may be associated with aortic stenosis with low level of evidence. 24903972

2014

dbSNP: rs2228145
rs2228145
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE Interleukin-6 receptor Asp358Ala gene polymorphism is associated with plasma C-reactive protein levels and severity of aortic valve stenosis. 24717336

2014

dbSNP: rs2296545
rs2296545
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE In conclusion, we have found the association of the renalase Glu37Asp polymorphism with left ventricle hypertrophy in large group of females with aortic stenosis. 29065134

2017

dbSNP: rs2528795
rs2528795
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE The G allele of SNP rs2528795 in the ELN gene was associated with aortic stenosis in WS participants (p < 0.0049) while the A allele of the same SNP was associated with aortic dilation in Dup7. 29614955

2018

dbSNP: rs3798220
rs3798220
LPA
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE Both LPA variants were associated with AS, with a per risk allele odds ratio of 1.34 (95% CI, 1.23-1.47; P = 1.7 × 10-10) for rs10455872 and 1.31 (95% CI, 1.09-1.58; P = 3.6 × 10-3) for rs3798220 after adjusting for age, age2, and sex. 29128868

2018

dbSNP: rs4762
rs4762
AGT
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE In subjects with aortic stenosis, left ventricular RWT was higher in those with ACE DD (P < 0.05) or AGT T174M (P < 0.06) compared with those with the ACE II or ID genotype or AGT TT174 genotype. 8800593

1996

dbSNP: rs563655306
rs563655306
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE We investigated the function and mechanism of two missense mutations, G184S and S192G, responsible for tetralogy of Fallot and aortic stenosis, respectively. 22735262

2012

dbSNP: rs6254
rs6254
PTH
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE Finally, rs1544410 polymorphism within the VDR gene, E2 and E4 alleles within the apoE gene, rs6254 polymorphism within the PTH gene, and rs1800871 polymorphism within the IL10 gene may be associated with aortic stenosis with low level of evidence. 24903972

2014

dbSNP: rs9939609
rs9939609
FTO
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis
0.010 GeneticVariation BEFREE This study revealed an association of FTO rs9939609 with AVS. 26431034

2015