UBE3B, ubiquitin protein ligase E3B, 89910

N. diseases: 119; N. variants: 12
Disease: Muscle 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: rs1304422857
rs1304422857 		1.000 12 109511304 splice donor variant G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 8 2003 2018