Variant: rs121909575 

    present in Gene: TFAP2A;TFAP2A-AS2
    present in Chromosome: 6
    Position on Chromosome: 10402590
    Alleles of this Variant: C/T

rs121909575 in TFAP2A;TFAP2A-AS2 gene and Branchio-Oculo-Facial Syndrome PMID 18423521 2008 TFAP2A mutations result in branchio-oculo-facial syndrome.