Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61027685
rs61027685
KRT14
0.010 GeneticVariation BEFREE The N123K and R125G mutations causing DM-EBS phenotypes are located within the helix initiation motif of the rod domain, whereas the very close V133L mutation underlying the WC-EBS phenotype is outside of this region. 14987259

2004