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: rs61755809
rs61755809
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE In the second family, the proband with retinitis pigmentosa carried a p.Arg220Trp mutation. 16916875 2007