KRT6C, keratin 6C, 286887

N. diseases: 14; N. variants: 4
Disease: Pachyonychia Congenita ×
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: 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