KRT9, keratin 9, 3857

N. diseases: 30; N. variants: 14
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: rs59616921
rs59616921 		0.807 0.120 17 41571506 missense variant G/A snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.860 1.000 6 2003 2016
dbSNP: rs56707768
rs56707768 		0.882 0.120 17 41571511 missense variant T/A;C snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.830 1.000 3 2002 2008
dbSNP: rs59296273
rs59296273 		1.000 0.080 17 41571512 missense variant T/A;G snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.820 1.000 2 2003 2004
dbSNP: rs28940896
rs28940896 		0.882 0.120 17 41571515 missense variant G/A;C snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 20 1994 2010
dbSNP: rs57019720
rs57019720 		1.000 0.080 17 41571482 missense variant C/T snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 20 1994 2010
dbSNP: rs57536312
rs57536312 		1.000 0.080 17 41571510 missense variant A/T snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 20 1994 2010
dbSNP: rs61157095
rs61157095 		1.000 0.080 17 41571490 missense variant A/G snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 20 1994 2010
dbSNP: rs58597584
rs58597584 		1.000 0.080 17 41571524 missense variant T/C;G snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs59510579
rs59510579 		1.000 0.080 17 41571523 missense variant A/C;G;T snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs59878153
rs59878153 		1.000 0.080 17 41571478 missense variant T/G snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs57758262
rs57758262 		0.925 0.120 17 41571505 missense variant C/G;T snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.730 1.000 22 1994 2019
dbSNP: rs59616921
rs59616921 		0.807 0.120 17 41571506 missense variant G/A snv
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 1 2009 2009
dbSNP: rs267607420
rs267607420 		1.000 0.080 17 41568196 missense variant A/G snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2010
dbSNP: rs58120120
rs58120120 		1.000 0.080 17 41568184 missense variant G/A snv
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2010
dbSNP: rs77688767
rs77688767 		1.000 0.080 17 41568340 missense variant A/G snv 1.2E-03 4.3E-04
CUI: C1721006
Disease: Keratoderma, Palmoplantar, Epidermolytic
Keratoderma, Palmoplantar, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 20 1994 2010
dbSNP: rs28940896
rs28940896 		0.882 0.120 17 41571515 missense variant G/A;C snv
CUI: C1840427
Disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs56707768
rs56707768 		0.882 0.120 17 41571511 missense variant T/A;C snv
CUI: C1840427
Disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59616921
rs59616921 		0.807 0.120 17 41571506 missense variant G/A snv
CUI: C1840427
Disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)
PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs59616921
rs59616921 		0.807 0.120 17 41571506 missense variant G/A snv
CUI: C0264000
Disease: Knuckle pads
Knuckle pads 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.030 1.000 3 2009 2018
dbSNP: rs28940896
rs28940896 		0.882 0.120 17 41571515 missense variant G/A;C snv
CUI: C0264000
Disease: Knuckle pads
Knuckle pads 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2003 2003
dbSNP: rs56707768
rs56707768 		0.882 0.120 17 41571511 missense variant T/A;C snv
CUI: C0264000
Disease: Knuckle pads
Knuckle pads 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs57758262
rs57758262 		0.925 0.120 17 41571505 missense variant C/G;T snv
CUI: C0264000
Disease: Knuckle pads
Knuckle pads 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs59616921
rs59616921 		0.807 0.120 17 41571506 missense variant G/A snv
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1995 1995
dbSNP: rs59616921
rs59616921 		0.807 0.120 17 41571506 missense variant G/A snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 1994 1994
dbSNP: rs59616921
rs59616921 		0.807 0.120 17 41571506 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 0.010 1.000 1 1994 1994