Disease: Congenital atresia of pulmonary artery ×
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: rs528302390
rs528302390 		0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs886037834
rs886037834 		0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.700 1.000 1 2016 2016