KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Generalized hypotonia ×
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: rs1057516033
rs1057516033 		0.807 0.400 10 75025250 splice donor variant G/A snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016