KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 26; N. variants: 25
Disease: Orbital separation excessive ×
Source: CLINVAR ×
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: rs1554846212
rs1554846212 		0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0