rs1185861796, GATA4

N. diseases: 2
Disease: Ventricular Septal Defects ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
0.010 GeneticVariation BEFREE Among the available genomic studies, the key findings in Africa were variants in GATA4 (P193H), MTHFR 677TT, and MTHFR 1298CC that were associated with atrial septal defect, ventricular septal defect (VSD), Tetralogy of Fallot (TOF), and patent ductus arteriosus phenotypes and 22q.11 deletion, which is associated with TOF. 29762087 2018