Variant: rs267607046 

    present in Gene: SH3PXD2B
    present in Chromosome: 5
    Position on Chromosome: 172422445
    Alleles of this Variant: G/A

rs267607046 in SH3PXD2B gene and Ter Haar syndrome PMID 20137777 2010 Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.