rs7543130
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|
A |
0.700 |
GeneticVariation |
GWASCAT |
Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis.
|
31387361 |
2019 |
rs9930956
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|
|
0.700 |
GeneticVariation |
GWASDB |
Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.
|
20098615 |
2010 |
rs1057518422
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|
T |
0.700 |
GeneticVariation |
CLINVAR |
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rs1057518788
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|
T |
0.700 |
GeneticVariation |
CLINVAR |
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rs1057518920
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
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rs1559470315
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
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rs1563005360
|
|
GAGG |
0.700 |
CausalMutation |
CLINVAR |
|
|
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rs1569484208
|
|
TTAA |
0.700 |
CausalMutation |
CLINVAR |
|
|
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rs1569484234
|
|
TAAA |
0.700 |
CausalMutation |
CLINVAR |
|
|
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rs1346272741
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggested that ADMTS5:c.935C>A are potentially associated with BAV.
|
29162281 |
2018 |
rs1830321
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Rs7543130 also associates with bicuspid aortic valve (BAV) (OR = 1.28, P = 6.6 × 10<sup>-10</sup>) and aortic root diameter (P = 1.30 × 10<sup>-8</sup>), and rs1830321 associates with BAV (OR = 1.12, P = 5.3 × 10<sup>-3</sup>) and coronary artery disease (OR = 1.05, P = 9.3 × 10<sup>-5</sup>).
|
29511194 |
2018 |
rs3764962
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Minor alleles of p.His302=, p.Arg202Gln and rs3764962 are enriched in BAV patients compared to ExAC database (P = 0.01, 0.03, and 0.01 respectively).
|
30229885 |
2018 |
rs387906656
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We show that p.Arg721Trp also associates with other CHDs, in particular bicuspid aortic valve.
|
29590334 |
2018 |
rs41305803
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a common polymorphism in GATA5 (p.Asp203=, rs41305803) is associated with BAV showing a protective effect in carriers of the minor allele (OR [95%CI] = 0.45[0.25-0.81]; P = 0.004).
|
30229885 |
2018 |
rs1155705
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923).
|
26708639 |
2016 |
rs12857479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923).
|
26708639 |
2016 |
rs17290301
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A significant association was observed between an in silico-predicted benign EGFR intronic variant (rs17290301) and BAV.
|
26708639 |
2016 |
rs2277923
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923).
|
26708639 |
2016 |
rs533525993
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923).
|
26708639 |
2016 |
rs61751489
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses performed by gender revealed different variants associated with BAV in men (EGFR rs533525993 and TEX26 rs12857479) and women (NOTCH1 rs61751489, TGFBR2 rs1155705, and NKX2-5 rs2277923).
|
26708639 |
2016 |
rs200383755
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel Ser19Trp variation was identified at a highly conserved amino acid residue in one patient, while the Gly166Ser variant was found in a familial case of BAV and associated aortopathy.
|
22641149 |
2012 |
rs557319054
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
|
16729972 |
2006 |
rs61755997
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
|
16729972 |
2006 |