Variant: rs730882143 

    present in Gene: C1QTNF5;MFRP
    present in Chromosome: 11
    Position on Chromosome: 119345569
    Alleles of this Variant: -/A;GA

rs730882143 in C1QTNF5;MFRP gene and Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen PMID 23742260 2014 Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

PMID 20361016 2010 A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.