PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		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
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		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
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		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
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		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: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs61755792
rs61755792
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		0.710 GeneticVariation BEFREE The Arg172Trp (R172W) peripherin/RDS mutation has been previously reported to cause a fully penetrant progressive macular dystrophy with high intrafamilial and interfamilial consistency of phenotype. 16019073 2005
dbSNP: rs61755792
rs61755792
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		A 0.710 CausalMutation CLINVAR
dbSNP: rs563581127
rs563581127
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs61755783
rs61755783
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs61755793
rs61755793
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C2751290
Disease:
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		T 0.700 CausalMutation CLINVAR