GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: Tetralogy of Fallot ×
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: rs121434424
rs121434424 		1.000 0.080 19 18869231 missense variant C/A;T snv 2.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 1 2007 2007
dbSNP: rs864622513
rs864622513 		1.000 0.080 19 18868791 missense variant A/G snv 1.1E-03 1.1E-04
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2007 2007
dbSNP: rs181317402
rs181317402 		0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2019 2019