rs1057516033 in
KAT6B gene and
Blepharophimosis
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs797044484 in
TP63 gene and
Blepharophimosis
PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.