KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Multiple congenital anomalies ×
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: rs199470477
rs199470477 		1.000 0.320 10 75029027 frameshift variant CT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 8 2011 2018