rs61755792, PRPH2

N. diseases: 10
Disease: Hereditary macular dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
0.020 GeneticVariation BEFREE Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. 19262438 2009
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
0.020 GeneticVariation BEFREE The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. 8747448 1995