CYLD, CYLD lysine 63 deubiquitinase, 1540

N. diseases: 211; N. variants: 34
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: rs121908389
rs121908389 		0.925 0.120 16 50791689 missense variant A/G snv
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 4 2002 2005
dbSNP: rs121908389
rs121908389 		0.925 0.120 16 50791689 missense variant A/G snv
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 3 2003 2006
dbSNP: rs121908390
rs121908390 		0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 2 2009 2014
dbSNP: rs2302759
rs2302759 		1.000 0.040 16 50793690 intron variant A/C;G snv 4.0E-06; 0.79
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2302759
rs2302759 		1.000 0.040 16 50793690 intron variant A/C;G snv 4.0E-06; 0.79
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3135503
rs3135503 		1.000 0.040 16 50757339 intron variant T/G snv 0.32
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs6500331
rs6500331 		1.000 0.040 16 50774815 intron variant G/A snv 0.51
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs7342715
rs7342715 		1.000 0.040 16 50753572 intron variant A/G snv 0.59
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs751919
rs751919 		1.000 0.040 16 50741834 intron variant T/G snv 0.35
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs8060598
rs8060598 		1.000 0.040 16 50747891 intron variant T/C snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs8062540
rs8062540 		1.000 0.040 16 50784021 non coding transcript exon variant A/G snv 0.39
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs121908388
rs121908388 		0.925 0.120 16 50792627 stop gained C/T snv
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
dbSNP: rs121908390
rs121908390 		0.807 0.200 16 50796443 stop gained C/G;T 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
dbSNP: rs121908390
rs121908390 		0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs764952788
rs764952788 		16 50779853 stop gained C/A;T snv 1.6E-05
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
dbSNP: rs886040868
rs886040868 		16 50754339 frameshift variant TGGA/- delins
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
dbSNP: rs886040869
rs886040869 		16 50754419 frameshift variant -/C delins
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
dbSNP: rs886040870
rs886040870 		1.000 0.120 16 50776221 frameshift variant CAAGAGGTGT/- delins
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040871
rs886040871 		16 50776242 frameshift variant -/AG delins
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
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
dbSNP: rs886040873
rs886040873 		16 50779889 stop gained C/T snv
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
dbSNP: rs886040874
rs886040874 		1.000 0.120 16 50781263 frameshift variant -/T delins
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040875
rs886040875 		1.000 0.120 16 50781323 frameshift variant -/T delins
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040876
rs886040876 		16 50781383 frameshift variant ATCA/- delins
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
dbSNP: rs886040879
rs886040879 		16 50782411 stop gained A/T snv
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