NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Congenital heart disease ×
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: 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: rs2277923
rs2277923 		0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.030 1.000 3 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: 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: 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: rs387906776
rs387906776 		1.000 0.080 5 173232775 missense variant G/A;C;T snv 4.2E-06; 8.4E-06
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010