rs61755792, PRPH2

N. diseases: 10
Disease: Autosomal dominant retinitis pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal dominant retinitis pigmentosa
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