Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755792
rs61755792
0.020 GeneticVariation BEFREE Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. 19262438

2009

dbSNP: rs61755792
rs61755792
0.020 GeneticVariation BEFREE The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. 8747448

1995