GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
Disease: Congenital diaphragmatic hernia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906818
rs387906818 		0.882 0.120 18 22181516 missense variant C/T snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 1 2014 2014
dbSNP: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 1 2014 2014
dbSNP: rs1555628863
rs1555628863 		0.925 0.080 18 22172215 frameshift variant G/- delins
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2014 2014