KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 ×
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: rs60723330
rs60723330 		0.925 0.120 17 41612315 missense variant T/C snv
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.800 1.000 1 1995 1995
dbSNP: rs59856285
rs59856285 		0.925 0.120 17 41612310 missense variant G/A;C snv
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs1555573633
rs1555573633 		1.000 0.120 17 41610341 protein altering variant CGCCCTCCAGCAGGCGGCGGTAGGTGG/GCC delins
CUI: C4552049
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0