Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.810 1.000 1 2008 2008
dbSNP: rs28936670
rs28936670
NKX2-5
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
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 		0.800 0
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.700 0
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
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: rs28936670
rs28936670
NKX2-5
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 		0.700 0
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.030 1.000 3 2013 2018
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.020 1.000 2 2013 2019
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.020 1.000 2 2013 2019
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.020 1.000 2 2013 2019
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis 		0.010 1.000 1 2006 2006
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.010 1.000 1 2019 2019
dbSNP: rs28936670
rs28936670
NKX2-5
0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670
NKX2-5
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 		0.010 1.000 1 2015 2015