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: 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: rs587776872
rs587776872 		1.000 18 22182775 frameshift variant TGAAAAAA/- delins
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs587776936
rs587776936 		1.000 18 22182831 frameshift variant AA/- delins
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs587777710
rs587777710 		0.807 0.160 18 22171856 stop gained G/T snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
dbSNP: rs797045593
rs797045593 		1.000 18 22172231 stop gained C/T snv
CUI: C4012454
Disease: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 		0.700 0
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: rs143085291
rs143085291 		1.000 0.040 18 22194545 intron variant C/T snv 7.1E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		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: rs368858287
rs368858287 		1.000 0.080 18 22200684 missense variant G/C;T snv 1.4E-05
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3764962
rs3764962 		1.000 0.040 18 22183050 splice region variant A/G snv 6.9E-02 0.20
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs387906816
rs387906816 		0.882 0.080 18 22171695 missense variant G/A snv 8.4E-04 1.5E-04
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 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: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
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: 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
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: 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: 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: 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