PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Autosomal dominant retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755792
rs61755792
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. 9810570 1998