KRT16, keratin 16, 3868

N. diseases: 97; 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: rs58181827
rs58181827 		1.000 0.080 17 41612298 inframe deletion AGG/- delins
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
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: rs59856285
rs59856285 		0.925 0.120 17 41612310 missense variant G/A;C snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs60944949
rs60944949 		1.000 0.080 17 41612294 missense variant A/G snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0