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: rs62645935
rs62645935
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Finally, we demonstrate that the p.G266D retinitis pigmentosa mutation found within TM4 selectively abolishes the binding of peripherin-2 to rhodopsin. 24963162 2014