GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Bicuspid aortic valve ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3764962
rs3764962
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0149630
Disease:
Bicuspid aortic valve 		0.010 GeneticVariation BEFREE Minor alleles of p.His302=, p.Arg202Gln and rs3764962 are enriched in BAV patients compared to ExAC database (P = 0.01, 0.03, and 0.01 respectively). 30229885 2018