KRT6C, keratin 6C, 286887

N. diseases: 14; N. variants: 4
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: rs587777292
rs587777292 		1.000 12 52469680 missense variant C/T snv
CUI: C3810394
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE
PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE 		0.800 1.000 3 2010 2013
dbSNP: rs267607474
rs267607474 		1.000 0.120 12 52473220 inframe deletion TTG/- 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
dbSNP: rs267607475
rs267607475 		1.000 0.120 12 52469684 inframe deletion GCAGCTTGCGGTAGGTGGCGATCTCCA/- 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
dbSNP: rs1255098084
rs1255098084 		1.000 0.080 12 52473222 missense variant G/C snv
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018