Variant: rs387907252

present in Gene: VAX1 present in Chromosome: 10 Position on Chromosome: 117134559 Alleles of this Variant: G/T

rs387907252 in VAX1 gene and MICROPHTHALMIA, SYNDROMIC 11 PMID 22095910 2012 VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.