Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 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: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs121918287
rs121918287
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.810 CausalMutation CLINVAR Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs121918288
rs121918288
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT

dbSNP: rs200277476
rs200277476
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs200277476
rs200277476
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

dbSNP: rs200277476
rs200277476
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Cortical image density determines the probability of target discovery during active search. 10788642

2000

dbSNP: rs200277476
rs200277476
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 GeneticVariation BEFREE The combination of Best1 and Best1 R141H does not cause disease, while Best1 R141H together with Best1 I366fsX18 causes ARB. 26200502

2015

dbSNP: rs121918284
rs121918284
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 GeneticVariation UNIPROT

dbSNP: rs121918286
rs121918286
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 GeneticVariation BEFREE Lastly, we find that the ARB truncation mutants L174Qfs*57 and R200X can form oligomers with WT Best1, indicating that the first ∼174 amino acids of Best1 are sufficient for oligomerization to occur. 24560797

2014

dbSNP: rs121918286
rs121918286
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 CausalMutation CLINVAR Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs281865277
rs281865277
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
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
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.710 GeneticVariation UNIPROT

dbSNP: rs267606678
rs267606678
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation UNIPROT

dbSNP: rs281865225
rs281865225
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation CLINVAR

dbSNP: rs368387447
rs368387447
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

dbSNP: rs368387447
rs368387447
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008

dbSNP: rs753614067
rs753614067
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR

dbSNP: rs765998048
rs765998048
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011

dbSNP: rs775283269
rs775283269
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR