Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7543130
rs7543130
LINC01708
A 0.700 GeneticVariation GWASCAT Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis. 31387361

2019
dbSNP: rs9930956
rs9930956
SLC9A3R2
0.700 GeneticVariation GWASDB Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve. 20098615

2010
dbSNP: rs1057518422
rs1057518422
TAB2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518788
rs1057518788
DSG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518920
rs1057518920
DSP
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559470315
rs1559470315
CTNNB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
GAGG 0.700 CausalMutation CLINVAR

dbSNP: rs1569484208
rs1569484208
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
TTAA 0.700 CausalMutation CLINVAR

dbSNP: rs1569484234
rs1569484234
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
TAAA 0.700 CausalMutation CLINVAR

dbSNP: rs1346272741
rs1346272741
NOS3
0.010 GeneticVariation BEFREE Our results suggested that ADMTS5:c.935C>A are potentially associated with BAV. 29162281

2018
dbSNP: rs1830321
rs1830321
TEX41 ; LOC100505498
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
dbSNP: rs3764962
rs3764962
GATA6
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
dbSNP: rs387906656
rs387906656
MYH6
0.010 GeneticVariation BEFREE We show that p.Arg721Trp also associates with other CHDs, in particular bicuspid aortic valve. 29590334

2018
dbSNP: rs41305803
rs41305803
GATA5
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
dbSNP: rs1155705
rs1155705
TGFBR2
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
dbSNP: rs12857479
rs12857479
TEX26
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
dbSNP: rs17290301
rs17290301
EGFR
0.010 GeneticVariation BEFREE A significant association was observed between an in silico-predicted benign EGFR intronic variant (rs17290301) and BAV. 26708639

2016
dbSNP: rs2277923
rs2277923
NKX2-5
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
dbSNP: rs533525993
rs533525993
EGFR
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
dbSNP: rs61751489
rs61751489
NOTCH1
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
dbSNP: rs200383755
rs200383755
GATA5
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
dbSNP: rs557319054
rs557319054
NOTCH1
0.010 GeneticVariation BEFREE Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972

2006
dbSNP: rs61755997
rs61755997
NOTCH1
0.010 GeneticVariation BEFREE Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972

2006