Variant: rs387906868

present in Gene: SIX3;SIX3-AS1 present in Chromosome: 2 Position on Chromosome: 44942603 Alleles of this Variant: G/T

rs387906868 in SIX3;SIX3-AS1 gene and Schizencephaly PMID 20157829 2010 Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.