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: rs57499817
rs57499817 		0.807 0.160 12 52520223 missense variant G/A 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 0.850 1.000 8 1996 2011
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: rs121912475
rs121912475 		1.000 0.080 12 52519160 missense variant C/A;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 0.800 1.000 7 1993 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: rs121912476
rs121912476 		1.000 12 52516824 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.800 1.000 1 2002 2002
dbSNP: rs59115483
rs59115483 		0.882 0.080 12 52519789 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.800 1.000 1 2002 2002
dbSNP: rs58163069
rs58163069 		1.000 0.080 12 52519778 missense variant C/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 0
dbSNP: rs59730172
rs59730172 		1.000 0.080 12 52517695 missense variant G/A;T snv 3.2E-05
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs61297109
rs61297109 		1.000 0.080 12 52517691 missense variant G/A;C;T 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 0.800 0
dbSNP: rs59190510
rs59190510 		0.851 0.080 12 52516647 stop gained C/A;T snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.730 1.000 3 1997 2019
dbSNP: rs57499817
rs57499817 		0.807 0.160 12 52520223 missense variant G/A snv
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.720 1.000 2 2005 2010
dbSNP: rs58766676
rs58766676 		0.925 0.080 12 52519120 missense variant T/A;C;G snv
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.720 1.000 2 2004 2010
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: 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: rs267607458
rs267607458 		1.000 0.080 12 52516794 missense variant C/T 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: rs56790237
rs56790237 		1.000 0.080 12 52517700 missense variant C/G 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: rs57142010
rs57142010 		0.925 0.080 12 52517699 missense variant T/A;C 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: rs57378129
rs57378129 		1.000 0.080 12 52519798 missense variant C/G;T snv 4.0E-06; 8.0E-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: rs57845028
rs57845028 		1.000 0.080 12 52516763 missense variant 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 1.000 15 1993 2011
dbSNP: rs58976397
rs58976397 		1.000 0.080 12 52519148 missense variant 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 1.000 15 1993 2011
dbSNP: rs59112594
rs59112594 		1.000 0.080 12 52517628 missense variant G/A;T snv 3.6E-05
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: 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: rs61222761
rs61222761 		0.925 0.080 12 52519824 missense variant T/A 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