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