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: 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: rs104893900
rs104893900 		1.000 5 173233011 missense variant G/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs104893906
rs104893906 		1.000 5 173232976 missense variant G/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs137852683
rs137852683 		0.925 5 173232648 missense variant T/C snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs387906773
rs387906773 		1.000 5 173235040 missense variant T/A snv
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs387906774
rs387906774 		1.000 5 173233164 missense variant G/C;T snv 4.3E-06
CUI: C3276096
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS
ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 		0.800 1.000 5 1998 2005
dbSNP: rs104893905
rs104893905 		0.925 0.080 5 173232898 missense variant G/A snv 4.4E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 3 1999 2003
dbSNP: rs6882776
rs6882776 		1.000 0.080 5 173237160 upstream gene variant G/A snv 0.34
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.800 1.000 2 2013 2018
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: rs6882776
rs6882776 		1.000 0.080 5 173237160 upstream gene variant G/A snv 0.34
CUI: C0018810
Disease: heart rate
heart rate 		0.800 1.000 1 2013 2013
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: 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 0
dbSNP: rs104893902
rs104893902 		0.925 0.080 5 173232888 missense variant G/A snv 7.0E-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: 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: rs104893905
rs104893905 		0.925 0.080 5 173232898 missense variant G/A snv 4.4E-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: rs1223599871
rs1223599871 		1.000 5 173232708 missense variant G/A snv 4.1E-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: rs137852686
rs137852686 		0.851 0.080 5 173232997 missense variant T/C 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 1.000 5 1998 2005
dbSNP: rs368366482
rs368366482 		1.000 5 173232721 missense variant G/A;C;T snv 4.2E-06; 9.7E-05
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: rs530270916
rs530270916 		1.000 5 173234896 missense variant G/A;T snv 1.8E-05; 4.4E-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: 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: rs760528062
rs760528062 		1.000 5 173232868 missense variant C/T snv 4.3E-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: 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: 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: rs1561621507
rs1561621507 		1.000 5 173234921 frameshift variant CCTCTGGCTTGAAGGCG/AGGAGGC 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: rs104893902
rs104893902 		0.925 0.080 5 173232888 missense variant G/A snv 7.0E-06
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