Source: ALL
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: rs61755781
rs61755781
PRPH2
C 0.800 CausalMutation CLINVAR

dbSNP: rs61755798
rs61755798
PRPH2
0.710 GeneticVariation BEFREE The Pro210Arg mutation has been reported previously in patients with pattern dystrophy confirming the observation that pattern dystrophy can present with an AVMD phenotype. 16885924

2006
dbSNP: rs121918564
rs121918564
PRPH2
0.710 GeneticVariation BEFREE Recently, a single case of adult vitelliform macular dystrophy (AVMD) has been associated with a Y258Stop mutation. 9338584

1997
dbSNP: rs121918564
rs121918564
PRPH2
T 0.710 CausalMutation CLINVAR

dbSNP: rs61755798
rs61755798
PRPH2
C 0.710 CausalMutation CLINVAR

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: rs121918565
rs121918565
PRPH2
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918566
rs121918566
PRPH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554269071
rs1554269071
PRPH2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1562434117
rs1562434117
PRPH2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61755769
rs61755769
PRPH2
T 0.700 CausalMutation CLINVAR

dbSNP: rs61755770
rs61755770
PRPH2
0.700 GeneticVariation UNIPROT

dbSNP: rs62645936
rs62645936
PRPH2
0.700 GeneticVariation UNIPROT

dbSNP: rs753657349
rs753657349
PRPH2
0.700 GeneticVariation UNIPROT

dbSNP: rs28940278
rs28940278
BEST1
0.010 GeneticVariation BEFREE Besides 4 previously reported mutations (p.Ser16Phe, p.Ser144Asn, p.Glu292Lys, p.Glu300Lys), 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) were identified, of which p.Arg47His has been reported in adult-onset vitelliform macular dystrophy. 27078032

2016