Variant: rs121434618 

    present in Gene: BCOR
    present in Chromosome: X
    Position on Chromosome: 40075092
    Alleles of this Variant: G/A;C

rs121434618 in BCOR gene and Microphthalmia, syndromic 2 PMID 15004558 2004 Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

PMID 19367324 2009 BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.