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: rs368418329
rs368418329
0.925 0.120 8 11708019 5 prime UTR variant G/T snv 5.9E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs56166237
rs56166237
0.882 0.120 8 11708411 missense variant G/T snv 3.6E-03 2.0E-03
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019