rs62645926, PRPH2

N. diseases: 4
Disease: Cone-Rod Dystrophies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
0.010 GeneticVariation BEFREE Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon (Tyr184Ser) of the peripherin/RDS gene. 8540854 1996