KRT10, keratin 10, 3858

N. diseases: 93; N. variants: 21
Disease: Hyperkeratosis, Epidermolytic ×
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: rs58852768
rs58852768 		0.882 0.080 17 40822120 missense variant G/A;C;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.830 1.000 12 1992 2015
dbSNP: rs58901407
rs58901407 		1.000 0.080 17 40822137 missense variant A/C;G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.820 1.000 11 1992 2011
dbSNP: rs58075662
rs58075662 		0.925 0.120 17 40822119 missense variant C/A;G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.820 1.000 2 2000 2012
dbSNP: rs57784225
rs57784225 		1.000 0.080 17 40822126 missense variant T/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 9 1992 2011
dbSNP: rs58414354
rs58414354 		1.000 0.080 17 40822108 missense variant A/C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 9 1992 2011
dbSNP: rs61434181
rs61434181 		1.000 0.080 17 40819575 stop gained T/A;C snv 4.0E-06
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 9 1992 2011
dbSNP: rs58026994
rs58026994 		1.000 0.080 17 40819565 missense variant A/T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs60118264
rs60118264 		1.000 0.080 17 40822104 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs387906640
rs387906640 		1.000 0.080 17 40819609 stop gained G/T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 1 2008 2008
dbSNP: rs267607383
rs267607383 		1.000 0.080 17 40819544 missense variant T/C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 9 1992 2011
dbSNP: rs267607381
rs267607381 		1.000 0.080 17 40820044 splice region variant C/T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs58735429
rs58735429 		1.000 0.080 17 40822107 missense variant T/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60035576
rs60035576 		1.000 0.080 17 40819590 stop gained G/A snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs267607377
rs267607377 		1.000 0.080 17 40819608 stop gained GG/TT mnv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008