Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755783
rs61755783
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology
0.010 GeneticVariation BEFREE The 65-year-old sister of this family had the Arg-142-Trp mutation with no macular abnormalities, but she might still develop central areolar choroidal dystrophy at an older age. 8644804

1996