Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928893
rs28928893
KRT14
0.010 GeneticVariation BEFREE We report a mutation in the gene encoding keratin 14 (KRT14) that changes the predicted amino acid at position 119, at the start of the helix initiation motif, from methionine to threonine (K14 M119T) in a patient with an EBS Dowling-Meara phenotype with severe palmo-plantar hyperkeratosis. 9804355

1998