GATA6, GATA binding protein 6, 2627

N. diseases: 259; N. variants: 21
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: rs387906813
rs387906813 		0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906817
rs387906817 		1.000 18 22181504 missense variant A/G snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906818
rs387906818 		0.882 0.120 18 22181516 missense variant C/T snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906820
rs387906820 		1.000 18 22181549 missense variant G/A snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.800 1.000 1 2011 2011
dbSNP: rs387906816
rs387906816 		0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.720 1.000 3 2010 2014
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: rs387906818
rs387906818 		0.882 0.120 18 22181516 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.710 1.000 1 2014 2014
dbSNP: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C0345140
Disease: Totally absent pericardium
Totally absent pericardium 		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: rs387906814
rs387906814 		1.000 0.080 18 22171736 missense variant C/G snv 6.6E-05 6.7E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2010 2010
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
dbSNP: rs1555628863
rs1555628863 		0.925 0.080 18 22172215 frameshift variant G/- delins
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs387906813
rs387906813 		0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2009 2009
dbSNP: rs387906815
rs387906815 		1.000 18 22171677 missense variant C/T snv 1.8E-04 8.5E-04
CUI: C3280939
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 5
ATRIOVENTRICULAR SEPTAL DEFECT 5 		0.700 1.000 1 2010 2010
dbSNP: rs387906816
rs387906816 		0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04
CUI: C3280943
Disease: ATRIAL SEPTAL DEFECT 9
ATRIAL SEPTAL DEFECT 9 		0.700 1.000 1 2010 2010
dbSNP: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C3808410
Disease: Gastrointestinal malrotation
Gastrointestinal malrotation 		0.700 1.000 1 2014 2014
dbSNP: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1555628863
rs1555628863 		0.925 0.080 18 22172215 frameshift variant G/- delins
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs387906813
rs387906813 		0.882 0.080 18 22181546 missense variant A/C;G snv
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		0.700 0
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 0