PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Cone Dystrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755766
rs61755766
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0730290
Disease:
Cone Dystrophy 		0.010 GeneticVariation BEFREE Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. 9052636 1997