GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Atrioventricular Septal Defect ×
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: rs4808863
rs4808863 		0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015