Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146189703
rs146189703
LOC105377552
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs17189763
rs17189763
HCG21
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs2517582
rs2517582
LINC02570
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs55884872
rs55884872 		0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs6886261
rs6886261
LOC648987 ; LOC105374748
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs7024392
rs7024392 		0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs74461473
rs74461473
SLC38A3
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
0.700 GeneticVariation UNIPROT A novel NKX2.6 mutation associated with congenital ventricular septal defect. 25380965

2015
dbSNP: rs11017328
rs11017328 		0.700 GeneticVariation GWASCAT Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 24800985

2014
dbSNP: rs1959122
rs1959122 		0.700 GeneticVariation GWASCAT Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 24800985

2014
dbSNP: rs2267386
rs2267386
KCNJ4 ; LOC105373029
0.700 GeneticVariation GWASCAT Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 24800985

2014
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
0.700 GeneticVariation UNIPROT Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. 24421281

2014
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
0.700 GeneticVariation UNIPROT Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease. 25195019

2014
dbSNP: rs4366490
rs4366490
SLC22A24 ; SLC22A10
0.700 GeneticVariation GWASCAT Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 24800985

2014
dbSNP: rs6140038
rs6140038 		0.700 GeneticVariation GWASCAT Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 24800985

2014
dbSNP: rs6545278
rs6545278 		0.700 GeneticVariation GWASCAT Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 24800985

2014
dbSNP: rs6763159
rs6763159
LOC105377110
0.700 GeneticVariation GWASCAT Genome-wide association study of maternal and inherited loci for conotruncal heart defects. 24800985

2014
dbSNP: rs121908601
rs121908601
ZFPM2
0.700 GeneticVariation UNIPROT New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 20807224

2011
dbSNP: rs387906813
rs387906813
GATA6
0.700 GeneticVariation UNIPROT GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. 19666519

2009
dbSNP: rs121434423
rs121434423
GDF1 ; CERS1
0.700 GeneticVariation UNIPROT Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340

2007
dbSNP: rs267606914
rs267606914
NKX2-6 ; LOC107986930
0.700 GeneticVariation UNIPROT Common arterial trunk associated with a homeodomain mutation of NKX2.6. 15649947

2005
dbSNP: rs202204708
rs202204708
ZFPM2 ; ZFPM2-AS1
0.700 GeneticVariation UNIPROT

dbSNP: rs28936670
rs28936670
NKX2-5
0.700 GeneticVariation UNIPROT

dbSNP: rs28939675
rs28939675
TBX1
0.700 GeneticVariation UNIPROT

dbSNP: rs587777422
rs587777422
NKX2-6 ; LOC107986930
TA 0.700 GeneticVariation CLINVAR