KRT16, keratin 16, 3868

N. diseases: 97; N. variants: 14
Disease: Pachyonychia Congenita ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928895
rs28928895
Entrez Id: 3868
Gene Symbol: KRT16
KRT16
CUI: C0265334
Disease:
Pachyonychia Congenita 		0.010 GeneticVariation BEFREE Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family. 24357266 2014