GATA4, GATA binding protein 4, 2626

N. diseases: 336; N. variants: 72
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: rs104894073
rs104894073
0.827 0.080 8 11750213 missense variant G/A;C;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs387906771
rs387906771
1.000 0.080 8 11750166 missense variant C/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs387906772
rs387906772
1.000 0.080 8 11755064 missense variant A/G;T snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4841587
rs4841587
1.000 0.080 8 11756666 non coding transcript exon variant G/T snv 0.37
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4841588
rs4841588
1.000 0.080 8 11756716 non coding transcript exon variant G/T snv 0.19
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs56208331
rs56208331
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 2007 2007
dbSNP: rs759067821
rs759067821
1.000 0.080 8 11758294 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2000 2000
dbSNP: rs804280
rs804280
0.882 0.120 8 11755189 intron variant C/A;G snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015