Gene: GATA6 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906818
rs387906818
GATA6
0.710 GeneticVariation BEFREE In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. 24385578

2014
dbSNP: rs387906818
rs387906818
GATA6
T 0.710 CausalMutation CLINVAR In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. 24385578

2014
dbSNP: rs587777710
rs587777710
GATA6
T 0.710 CausalMutation CLINVAR In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. 24385578

2014
dbSNP: rs587777710
rs587777710
GATA6
0.710 GeneticVariation BEFREE In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. 24385578

2014
dbSNP: rs1555628863
rs1555628863
GATA6
C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014