CYLD, CYLD lysine 63 deubiquitinase, 1540

N. diseases: 211; N. variants: 34
Disease: Ancell-Spiegler cylindromas ×
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: rs886040872
rs886040872 		16 50777915 stop gained C/A snv 4.0E-06
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0