Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation BEFREE Three heterozygous missense mutations, c.151G>A (E51K), c.551G>A (S184N) and c.733G>C (G245R), were identified in patients with tetralogy of Fallot or persistent truncus arteriosus. 24841381

2014
dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743

2010
dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation BEFREE The same heterozygous missense mutation (Ser184Asn) was identified in three patients, including one with tetralogy of Fallot and two with atrial septal defects. 20631719

2010
dbSNP: rs387906816
rs387906816
GATA6
0.720 GeneticVariation UNIPROT A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. 20631719

2010