PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755805
rs61755805
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE The recurrent mutation P216S was identified in a pedigree with autosomal dominant RP. 9361310 1997