GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Congenital Heart Defects ×
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: rs374016704
rs374016704 		0.925 0.120 19 18868625 missense variant A/G snv 5.1E-04 2.7E-04
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs4808863
rs4808863 		0.851 0.080 19 18869363 missense variant G/A snv 0.37 0.30
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2015 2015