rs387906818, GATA6

N. diseases: 3
Disease: Tetralogy of Fallot ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
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
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
0.710 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578 2014