Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865277
rs281865277
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs281865277
rs281865277
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: rs281865277
rs281865277
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies. 21330666

2011
dbSNP: rs281865277
rs281865277
BEST1 ; LOC107984334
0.710 GeneticVariation BEFREE Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies. 21330666

2011
dbSNP: rs281865277
rs281865277
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
dbSNP: rs281865277
rs281865277
BEST1 ; LOC107984334
0.710 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008