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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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