rs267607473, KRT6B

N. diseases: 3
Disease: Phrynoderma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Phrynoderma
CUI: C0334013
Disease: Phrynoderma
0.010 GeneticVariation BEFREE Herein we present a female patient with an amino acid substitution mutation in KRT6A (c.1381G>A, p.Glu461Lys in exon 7) and classic features of PC associated with oral leucokeratosis and follicular hyperkeratosis. 30307612 2019