Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		0.010 GeneticVariation BEFREE Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy. 21809908

2012