KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara ×
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: rs57890479
rs57890479 		1.000 0.080 12 52519774 missense variant G/A snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 10 1992 2011
dbSNP: rs60715293
rs60715293 		0.925 0.080 12 52519756 missense variant A/G snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 10 1992 2011
dbSNP: rs61348633
rs61348633 		0.925 0.080 12 52516652 missense variant T/C snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 10 1992 2011
dbSNP: rs59190510
rs59190510 		0.851 0.080 12 52516647 stop gained C/A;T snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 11 1992 2019
dbSNP: rs267607456
rs267607456 		1.000 0.080 12 52519802 missense variant C/A;G snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1992 2011
dbSNP: rs57155193
rs57155193 		1.000 0.080 12 52516653 missense variant C/T snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1992 2011
dbSNP: rs57781042
rs57781042 		1.000 0.080 12 52519761 missense variant A/G snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1992 2011
dbSNP: rs59092197
rs59092197 		1.000 0.080 12 52519770 missense variant T/C snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1992 2011
dbSNP: rs60271599
rs60271599 		1.000 0.080 12 52516676 missense variant A/G snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1992 2011
dbSNP: rs60596287
rs60596287 		1.000 0.080 12 52516671 missense variant T/G snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1992 2011
dbSNP: rs60720877
rs60720877 		1.000 0.080 12 52519791 missense variant C/G;T snv 7.2E-05
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 10 1992 2011
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58619430
rs58619430 		1.000 0.080 12 52519795 missense variant C/T snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60586163
rs60586163 		0.882 0.080 12 52519137 missense variant G/A;C;T snv 4.0E-06
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886039403
rs886039403 		1.000 0.080 12 52519741 splice donor variant C/T snv
CUI: C0079295
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0