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: rs119473033
rs119473033 		0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs748106387
rs748106387 		0.851 0.240 2 216415427 stop gained C/A;T snv 2.8E-05
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0