rs61755792, PRPH2

N. diseases: 10
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.710 GeneticVariation BEFREE The Arg172Trp (R172W) peripherin/RDS mutation has been previously reported to cause a fully penetrant progressive macular dystrophy with high intrafamilial and interfamilial consistency of phenotype. 16019073 2005
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
0.710 CausalMutation CLINVAR