Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755810
rs61755810
PRPH2
0.700 GeneticVariation UNIPROT In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. 26796962

2016
dbSNP: rs61755810
rs61755810
PRPH2
0.700 GeneticVariation UNIPROT A novel mutation in the RDS gene in an Italian family with pattern dystrophy. 16024869

2005
dbSNP: rs61755810
rs61755810
PRPH2
0.700 GeneticVariation UNIPROT Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 9443872

1998
dbSNP: rs61755810
rs61755810
PRPH2
0.700 GeneticVariation UNIPROT Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. 8485574

1993