Gene: PRPH2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755781
rs61755781
PRPH2
0.800 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012
dbSNP: rs61748432
rs61748432
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: rs61755801
rs61755801
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: rs61748432
rs61748432
PRPH2
0.700 GeneticVariation UNIPROT PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611

2011
dbSNP: rs61755801
rs61755801
PRPH2
0.700 GeneticVariation UNIPROT PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611

2011
dbSNP: rs61748432
rs61748432
PRPH2
0.700 GeneticVariation UNIPROT High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. 17653047

2007
dbSNP: rs61755801
rs61755801
PRPH2
0.700 GeneticVariation UNIPROT High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. 17653047

2007
dbSNP: rs61748432
rs61748432
PRPH2
0.700 GeneticVariation UNIPROT A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 15370544

2004
dbSNP: rs61755801
rs61755801
PRPH2
0.700 GeneticVariation UNIPROT A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 15370544

2004
dbSNP: rs61748432
rs61748432
PRPH2
0.700 GeneticVariation UNIPROT Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. 9338584

1997
dbSNP: rs61755801
rs61755801
PRPH2
0.700 GeneticVariation UNIPROT Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. 9338584

1997
dbSNP: rs61755770
rs61755770
PRPH2
0.700 GeneticVariation UNIPROT

dbSNP: rs62645936
rs62645936
PRPH2
0.700 GeneticVariation UNIPROT

dbSNP: rs753657349
rs753657349
PRPH2
0.700 GeneticVariation UNIPROT