Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918288
rs121918288
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008
dbSNP: rs121918288
rs121918288
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR

dbSNP: rs121918288
rs121918288
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.800 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: rs121918288
rs121918288
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
dbSNP: rs121918288
rs121918288
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012
dbSNP: rs121918288
rs121918288
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs121918288
rs121918288
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs771898125
rs771898125
BEST1
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.010 GeneticVariation BEFREE Both ARB patients harbored either proven (patient 1; c.102C>T p.Gly34Gly and c.572T>C p.Leu191Pro) or presumed (patient 2; c.102C>T p.Gly34Gly and c.1470_1471delCA, p.His490GlnfsX24) biallelic mutations in BEST1 and were found to have phenotypes consistent with ARB. 21203346

2010
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation BEFREE We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the ARB phenotype. 26333019

2016
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 22234150

2012
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 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
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		A 0.820 CausalMutation CLINVAR

dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT 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
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.820 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		T 0.810 GeneticVariation CLINVAR A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		T 0.810 GeneticVariation CLINVAR Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		T 0.810 GeneticVariation CLINVAR Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. 21273940

2011
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation UNIPROT

dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.810 GeneticVariation BEFREE However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB). 28831140

2017
dbSNP: rs200277476
rs200277476
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		T 0.810 GeneticVariation CLINVAR Cortical image density determines the probability of target discovery during active search. 10788642

2000
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation UNIPROT Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 18179881

2008
dbSNP: rs765998048
rs765998048
BEST1 ; LOC107984334
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		0.710 GeneticVariation UNIPROT A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 26720466

2015