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: rs397516908
rs397516908 		5 173233142 frameshift variant CCG/AT delins
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 1998 1999
dbSNP: rs1345146178
rs1345146178 		5 173233003 stop gained G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: rs864321650
rs864321650 		5 173234902 missense variant G/A;C snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs864321650
rs864321650 		5 173234902 missense variant G/A;C snv
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		0.010 1.000 1 2009 2009
dbSNP: rs866024579
rs866024579 		5 173232819 missense variant C/T snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
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: rs864321648
rs864321648 		5 173233153 missense variant C/T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs864321649
rs864321649 		5 173233101 missense variant G/A;T snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs864321650
rs864321650 		5 173234902 missense variant G/A;C snv
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs876657934
rs876657934 		5 173233212 splice region variant G/C snv
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 1.000 3 2013 2018
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2013 2019
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.020 1.000 2 2013 2019
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
Patent ductus arteriosus - persisting type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.020 1.000 2 2013 2019
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.810 1.000 1 2008 2008
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0342153
Disease: Congenital thyroid hypoplasia
Congenital thyroid hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
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: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
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: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
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: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.800 0
dbSNP: rs28936670
rs28936670 		0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0152419
Disease: Interrupted aortic arch
Interrupted aortic arch 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0