rs28936670, NKX2-5

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.810 1.000 1 2008 2008
HYPOPLASTIC LEFT HEART SYNDROME 2
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
11 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.800 0
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
CUI: C2673630
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)
3 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.800 0
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
31 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.700 0
CONOTRUNCAL HEART MALFORMATIONS (disorder)
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
22 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.700 0
Interrupted aortic arch
CUI: C0152419
Disease: Interrupted aortic arch
1 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.700 0
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.030 1.000 3 2013 2018
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.020 1.000 2 2013 2019
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.020 1.000 2 2013 2019
Patent ductus arteriosus - persisting type
CUI: C3495549
Disease: Patent ductus arteriosus - persisting type
10 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.020 1.000 2 2013 2019
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
77 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2015 2015
Congenital thyroid hypoplasia
CUI: C0342153
Disease: Congenital thyroid hypoplasia
5 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2017 2017
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2015 2015
Heart Septal Defects
CUI: C0018816
Disease: Heart Septal Defects
12 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2019 2019
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2017 2017
Thyroid Dysgenesis
CUI: C1563716
Disease: Thyroid Dysgenesis
5 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2006 2006
Thyroid Hypoplasia
CUI: C0151516
Disease: Thyroid Hypoplasia
6 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2017 2017