Variant: rs61755802 

    present in Gene: PRPH2
    present in Chromosome: 6
    Position on Chromosome: 42704556
    Alleles of this Variant: A/G

rs61755802 in PRPH2 gene and MACULAR DYSTROPHY, PATTERNED, 1 PMID 9443872 1998 Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

PMID 8485574 1993 Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.

PMID 16024869 2005 A novel mutation in the RDS gene in an Italian family with pattern dystrophy.

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.