Gene: PRPH2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918567
rs121918567
PRPH2
0.800 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: rs121918567
rs121918567
PRPH2
0.800 GeneticVariation UNIPROT PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611

2011
dbSNP: rs121918567
rs121918567
PRPH2
0.800 GeneticVariation UNIPROT Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. 19038374

2009
dbSNP: rs121918567
rs121918567
PRPH2
0.800 GeneticVariation UNIPROT Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. 16832026

2006
dbSNP: rs563581127
rs563581127
PRPH2
0.700 GeneticVariation UNIPROT