HDAC8, histone deacetylase 8, 55869

N. diseases: 236; N. variants: 28
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: rs397515415
rs397515415 		0.807 0.240 X 72495216 stop gained G/A;T snv
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0