Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1531070
rs1531070
MAML3
A 0.800 GeneticVariation GWASCAT A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. 23708190

2013
dbSNP: rs1531070
rs1531070
MAML3
A 0.800 GeneticVariation GWASDB A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. 23708190

2013
dbSNP: rs2474937
rs2474937 		C 0.800 GeneticVariation GWASCAT A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. 23708190

2013
dbSNP: rs2474937
rs2474937 		C 0.800 GeneticVariation GWASDB A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. 23708190

2013
dbSNP: rs1176869
rs1176869
LOC105370467
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs11895588
rs11895588
LRP1B
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs1245314
rs1245314 		0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs146189703
rs146189703
LOC105377552
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs17111230
rs17111230 		0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs1941023
rs1941023
LOC105369320
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs2844660
rs2844660 		0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397516908
rs397516908
NKX2-5
AT 0.700 GeneticVariation CLINVAR Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 10587520

1999
dbSNP: rs397516908
rs397516908
NKX2-5
AT 0.700 GeneticVariation CLINVAR Congenital heart disease caused by mutations in the transcription factor NKX2-5. 9651244

1998
dbSNP: rs56409046
rs56409046 		0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs66678247
rs66678247
LOC107986115
0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs75661265
rs75661265 		0.700 GeneticVariation GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790

2017
dbSNP: rs870142
rs870142
STX18-AS1
A 0.700 GeneticVariation GWASCAT Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. 23708191

2013
dbSNP: rs876657934
rs876657934
NKX2-5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism. 17510921

2007
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE This article is to investigate the association between C677T polymorphism of 5, 10-methylenetetrahydrofolate (MTHFR) gene and congenital heart defects (CHD). 30334422

2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE Congenital heart defects (CHD) are the third leading cause of death in children <1 year of age in Mexico where there is a high prevalence of the 677C → T polymorphism of the MTHFR gene. 22660520

2013
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE Meta analysis of the association between MTHFR C677T polymorphism and the risk of congenital heart defects. 22175539

2012
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE Fifty percent of these isolated congenital cardiac defects were associated with either the C677T MTHFR mutation or elevated amniotic fluid homocysteine levels, or both. 11303187

2001
dbSNP: rs1217691063
rs1217691063
MTHFR
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. 24566197

2014