GATA5, GATA binding protein 5, 140628

N. diseases: 101; N. variants: 12
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: rs1555896779
rs1555896779
1.000 20 62473507 missense variant G/C snv
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013