Variant: rs137853006 

    present in Gene: PROM1
    present in Chromosome: 4
    Position on Chromosome: 16013299
    Alleles of this Variant: G/A

rs137853006 in PROM1 gene and Bull's eye macular dystrophy PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

rs137853006 in PROM1 gene and CONE-ROD DYSTROPHY 12 (disorder) PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

rs137853006 in PROM1 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137853006 in PROM1 gene and Retinal Dystrophies PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

rs137853006 in PROM1 gene and STARGARDT DISEASE 1 (disorder) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137853006 in PROM1 gene and Stargardt disease 4 PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.