CYLD, CYLD lysine 63 deubiquitinase, 1540

N. diseases: 211; N. variants: 34
Disease: Eccrine dermal cylindroma ×
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: rs121908388
rs121908388 		0.925 0.120 16 50792627 stop gained C/T snv
CUI: C1305968
Disease: Eccrine dermal cylindroma
Eccrine dermal cylindroma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2004 2016
dbSNP: rs121908390
rs121908390 		0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06
CUI: C1305968
Disease: Eccrine dermal cylindroma
Eccrine dermal cylindroma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs587778223
rs587778223 		0.925 0.120 16 50784435 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C1305968
Disease: Eccrine dermal cylindroma
Eccrine dermal cylindroma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015