GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906815
rs387906815
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C3280939
Disease:
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.700 GeneticVariation UNIPROT Identification of GATA6 sequence variants in patients with congenital heart defects. 20581743 2010