KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
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: rs61348424
rs61348424 		1.000 0.080 12 52519878 frameshift variant -/T delins
CUI: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555156076
rs1555156076 		1.000 0.080 12 52516682 missense variant A/C snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59864957
rs59864957 		1.000 0.080 12 52517750 missense variant A/C;G snv 4.0E-06
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs58058996
rs58058996 		1.000 0.080 12 52519815 missense variant A/C;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
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: 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: 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: rs57599352
rs57599352 		1.000 0.080 12 52516688 missense variant A/G snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 7 1993 2011
dbSNP: rs59840738
rs59840738 		1.000 0.080 12 52517714 missense variant A/G snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 7 1993 2011
dbSNP: rs60715293
rs60715293 		0.925 0.080 12 52519756 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 0.010 1.000 1 2011 2011
dbSNP: rs58107458
rs58107458 		1.000 0.080 12 52517708 missense variant A/G snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59851104
rs59851104 		0.925 0.080 12 52519869 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: rs121912474
rs121912474 		1.000 0.080 12 52520277 missense variant A/G;T snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
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: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C0432316
Disease: Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C4552092
Disease: Dowling-Degos disease 1
Dowling-Degos disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.700 0
dbSNP: rs58072617
rs58072617 		0.790 0.120 12 52517702 missense variant A/G;T snv
CUI: C1836284
Disease: Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59335325
rs59335325 		1.000 0.080 12 52517711 missense variant A/G;T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59851104
rs59851104 		0.925 0.080 12 52519869 missense variant A/G;T snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs267607457
rs267607457 		1.000 0.080 12 52519159 missense variant A/T snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 15 1993 2011
dbSNP: rs1565593355
rs1565593355 		1.000 0.080 12 52518117 frameshift variant C/- del
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2010
dbSNP: rs61126080
rs61126080 		0.925 0.120 12 52515066 frameshift variant C/- delins
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0