GDF1, growth differentiation factor 1, 2657

N. diseases: 136; N. variants: 14
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder) ×
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: rs121434423
rs121434423 		0.925 0.080 19 18868916 missense variant C/T snv 7.2E-06
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2007 2007