PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Cone-Rod Dystrophies ×
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: C4085590
Disease:
Cone-Rod Dystrophies 		T 0.700 GeneticVariation CLINVAR Genes and mutations in autosomal dominant cone and cone-rod dystrophy. 22183351 2012
dbSNP: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C4085590
Disease:
Cone-Rod Dystrophies 		T 0.700 GeneticVariation CLINVAR Role of the second intradiscal loop of peripherin/rds in homo and hetero associations. 15779916 2005
dbSNP: rs121918567
rs121918567
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C4085590
Disease:
Cone-Rod Dystrophies 		T 0.700 GeneticVariation CLINVAR Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 14557183 2003