Variant: rs61748432 

    present in Gene: PRPH2
    present in Chromosome: 6
    Position on Chromosome: 42698422
    Alleles of this Variant: C/T

rs61748432 in PRPH2 gene and Adult-Onset Vitelliform Macular Dystrophy PMID 17653047 2007 High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.

PMID 9338584 1997 Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.

PMID 20213611 2011 PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.

PMID 15370544 2004 A novel RDS/peripherin gene mutation associated with diverse macular phenotypes.

PMID 26796962 2016 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.