NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
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: rs1561619801
rs1561619801 		1.000 5 173233168 frameshift variant -/T delins
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 4 1998 2011
dbSNP: rs779548360
rs779548360 		1.000 5 173234951 missense variant A/C;G snv 4.2E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs104893907
rs104893907 		1.000 5 173232776 stop gained A/C;T snv
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104893907
rs104893907 		1.000 5 173232776 stop gained A/C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104893907
rs104893907 		1.000 5 173232776 stop gained A/C;T snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs753937287
rs753937287 		1.000 5 173234933 missense variant A/G snv 4.2E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs587782930
rs587782930 		1.000 5 173232816 frameshift variant ACGCCGTA/- del
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs587782929
rs587782929 		1.000 5 173232926 frameshift variant C/- delins
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs606231360
rs606231360 		1.000 5 173234822 frameshift variant C/- del
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 0
dbSNP: rs864321645
rs864321645 		5 173233210 splice acceptor variant C/A snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs703752
rs703752 		5 173232508 3 prime UTR variant C/A;G snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs137852684
rs137852684 		0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs137852684
rs137852684 		0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs137852684
rs137852684 		0.925 0.160 5 173233189 missense variant C/A;T snv 9.0E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs104893904
rs104893904 		0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.700 1.000 5 1998 2005
dbSNP: rs104893904
rs104893904 		0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 1999 2003
dbSNP: rs3729753
rs3729753 		1.000 0.040 5 173232938 synonymous variant C/G snv 9.9E-03 2.2E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2009 2016
dbSNP: rs3729753
rs3729753 		1.000 0.040 5 173232938 synonymous variant C/G snv 9.9E-03 2.2E-03
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2013 2016
dbSNP: rs104893904
rs104893904 		0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs104893904
rs104893904 		0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs104893904
rs104893904 		0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs104893904
rs104893904 		0.807 0.160 5 173235023 missense variant C/G snv 1.1E-03 7.1E-04
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs137852685
rs137852685 		0.925 0.120 5 173233062 missense variant C/G snv 8.7E-06
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs137852685
rs137852685 		0.925 0.120 5 173233062 missense variant C/G snv 8.7E-06
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs3729753
rs3729753 		1.000 0.040 5 173232938 synonymous variant C/G snv 9.9E-03 2.2E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019