Variant: rs111033578 

    present in Gene: MFRP;C1QTNF5
    present in Chromosome: 11
    Position on Chromosome: 119339574
    Alleles of this Variant: G/C

rs111033578 in MFRP;C1QTNF5 gene and LATE-ONSET RETINAL DEGENERATION (disorder) PMID 22892318 2012 Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.

PMID 12944416 2003 Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals.