KRT14, keratin 14, 3861

N. diseases: 173; N. variants: 47
Disease: Epidermolysis Bullosa Simplex ×
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: rs60399023
rs60399023 		0.827 0.200 17 41586462 missense variant G/A;C snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.770 1.000 7 2002 2018
dbSNP: rs28928893
rs28928893 		0.882 0.120 17 41586479 missense variant A/G snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 1 1998 1998
dbSNP: rs58330629
rs58330629 		0.851 0.120 17 41586461 missense variant C/A;G;T snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 1 2015 2015
dbSNP: rs60171927
rs60171927 		0.925 0.080 17 41586467 missense variant T/C snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs267607392
rs267607392 		1.000 0.080 17 41586428 missense variant A/G;T snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs267607396
rs267607396 		1.000 0.080 17 41586453 missense variant A/G;T snv 4.0E-06
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs57121345
rs57121345 		0.925 0.080 17 41586404 missense variant T/G snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1993 1993
dbSNP: rs58762773
rs58762773 		0.882 0.080 17 41583245 missense variant C/G;T snv 4.0E-06
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs59780231
rs59780231 		0.925 0.080 17 41583272 missense variant C/G;T snv 2.1E-02
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs60470268
rs60470268 		0.925 0.080 17 41586450 missense variant A/C snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1996 1996
dbSNP: rs61027685
rs61027685 		0.882 0.080 17 41586438 missense variant C/A;G;T snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs762040846
rs762040846 		1.000 0.080 17 41586327 missense variant C/T snv 4.0E-06
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002