rs61755792, PRPH2

N. diseases: 10
Disease: Age related macular degeneration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS. 24463884 2014
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE This paper demonstrates that visual prognosis in macular dystrophies associated with peripherin/RDS may be mutation specific and, for the Arg172Trp substitution, worse than the Arg142Trp and Arg172Gln substitutions. 19262438 2009
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE One mutation in exon 1, R172W, has been described previously in other ethnic groups as causing a macular degeneration. 10193525 1998
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.040 GeneticVariation BEFREE The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. 8747448 1995