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: 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: C0238521
Disease: VENTRICULAR SEPTAL DEFECT, LARGE
VENTRICULAR SEPTAL DEFECT, LARGE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: 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: 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: rs757797666
rs757797666 		0.925 0.240 18 22171617 missense variant G/T snv 1.4E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs757797666
rs757797666 		0.925 0.240 18 22171617 missense variant G/T snv 1.4E-05
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
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: rs757797666
rs757797666 		0.925 0.240 18 22171617 missense variant G/T snv 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs387906819
rs387906819 		0.882 0.120 18 22181517 missense variant G/A snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 0
dbSNP: rs747737834
rs747737834 		1.000 0.080 18 22171371 missense variant G/A;T snv 5.0E-06
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1416421760
rs1416421760 		1.000 0.080 18 22168362 non coding transcript exon variant C/A snv 1.4E-05
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1445501474
rs1445501474 		1.000 0.080 18 22168521 intron variant G/T snv 1.4E-05
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs146243018
rs146243018 		18 22200698 missense variant C/G snv 2.5E-04 1.7E-04
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: 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: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2014 2014