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: 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: rs727504412
rs727504412
JAG1
C 0.700 CausalMutation CLINVAR Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 15712272

2005
dbSNP: rs727504412
rs727504412
JAG1
C 0.700 CausalMutation CLINVAR DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 12442286

2002
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: rs727504412
rs727504412
JAG1
C 0.700 CausalMutation CLINVAR Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 10220506

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: rs727504412
rs727504412
JAG1
C 0.700 CausalMutation CLINVAR Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 9207788

1997
dbSNP: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs876657934
rs876657934
NKX2-5
C 0.700 GeneticVariation CLINVAR

dbSNP: rs879253817
rs879253817
CIT
A 0.700 CausalMutation CLINVAR

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