Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
0.710 GeneticVariation BEFREE Of them, 14 were associated with ARB, 23 with BVMD and two (c.604C>T and c.898G>A) with both BVMD and ARB. 31519547

2019
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. 26200502

2015
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008