Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918567
rs121918567
PRPH2
0.020 GeneticVariation BEFREE A p.R195L mutation previously described in CACD was found in 2 members of a family with CACD. 20213611

2011
dbSNP: rs121918567
rs121918567
PRPH2
0.020 GeneticVariation BEFREE Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. 16832026

2006