Variant: rs797045054

present in Gene: MFRP;C1QTNF5 present in Chromosome: 11 Position on Chromosome: 119344332 Alleles of this Variant: G/A

rs797045054 in MFRP;C1QTNF5 gene and Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.