Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064796849
rs1064796849
BEST1
0.010 GeneticVariation BEFREE AVMD induced by p.Ile38Ser BEST1 mutation is a mild form of BVMD. 28831140

2017
dbSNP: rs11169953
rs11169953
ACVRL1
0.010 GeneticVariation BEFREE Multifactor dimensionality reduction for interactions among genes revealed a 4-locus model of BMPR-2 rs6717924G/A; ALK-1 rs11169953C/T-rs706816T/C and 5-HTT rs6354A/C as the best disease predicting (P≤0.001); whereas HapEvolution analysis confirmed the alleles rs6717924A, rs4303700A and rs6354C as the best interacting (P≤0.01). 27196063

2016
dbSNP: rs1129649
rs1129649
GNB3 ; P3H3
0.010 GeneticVariation BEFREE The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the best disease conferring model. 23691120

2013
dbSNP: rs121918283
rs121918283
BEST1 ; LOC107984334
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Clinical and molecular genetic analysis of best vitelliform macular dystrophy. 19357557

2009
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320

2001
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Bestrophin Cl- channels are highly permeable to HCO3-. 18400985

2008
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 10798642

2000
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT The mutation spectrum of the bestrophin protein--functional implications. 10394929

1999
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
A 0.810 CausalMutation CLINVAR

dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Identification of the gene responsible for Best macular dystrophy. 9662395

1998
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. 10453731

1999
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. 11241846

2001
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 21330666

2011
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2). 15176385

2004
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. 10682987

2000
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 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
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). 9700209

1998
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Identification of a novel VMD2 mutation in Japanese patients with Best disease. 12187431

2002
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 18766995

2008
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. 10331951

1999
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). 14517959

2003
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Phenotype and genotype correlations in two best families. 13129869

2003
dbSNP: rs121918284
rs121918284
BEST1 ; LOC107984334
0.810 GeneticVariation UNIPROT Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. 12324875

2002
dbSNP: rs121918285
rs121918285
BEST1
G 0.700 CausalMutation CLINVAR