Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1061170
rs1061170
CFH
0.010 GeneticVariation BEFREE CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. 30285522

2018
dbSNP: rs201471607
rs201471607
ABCA4
0.010 GeneticVariation BEFREE Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. 29145636

2018
dbSNP: rs775179967
rs775179967
DNAH8
0.010 GeneticVariation BEFREE Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. 29145636

2018
dbSNP: rs3112831
rs3112831
ABCA4
0.010 GeneticVariation BEFREE In conclusion, even though the c.1268A>G missense variant of the ABCA4 gene has often been reported as causative of disease, and in other cases protective of disease, in our family case, the variant appears to reduce or delay the risk of onset of Stargardt disease. 28290600

2017
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.010 GeneticVariation BEFREE First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice. 20206286

2010
dbSNP: rs137853300
rs137853300
TIMP3 ; SYN3
0.010 GeneticVariation BEFREE First, genetically engineered mice that target genes related to juvenile macular dystrophies are the most common models, and they include abcr(-/-) (Stargardt disease), transgenic ELOVL4 (Stargardt-3 dominant inheritary disease), Efemp1(R345W/R345W) (Doyne honeycomb retinal dystrophy), and Timp3(S156C/S156C) (Sorsby fundus dystrophy) mice. 20206286

2010
dbSNP: rs61750120
rs61750120
ABCA4
0.010 GeneticVariation BEFREE Molecular genetic examination of the ABCR gene showed two heterozygous missense mutations: R1108C (CGC-->TGC) in exon 22 and a splicing mutation IVS6--> 1GT - described in the literature in association with Stargardt disease. 16703556

2006
dbSNP: rs62645944
rs62645944
ABCA4
0.010 GeneticVariation BEFREE In family A, 2 sisters were diagnosed with Stargardt's disease (STGD); the eldest sister was compound heterozygous for the mild 2588G-->C and the severe 768G-->T mutation. 15019334

2004
dbSNP: rs756840095
rs756840095
ABCA4
0.010 GeneticVariation BEFREE The first, a mild form, consisting on fundus flavimaculatus-like distribution of flecks, but good visual acuity and absence of dark choroid, was found to cosegregate with alleles R1097C and F553L; the second, a conventional Stargardt phenotype was associated to alleles L1940P/R1097C and the third, displaying severely reduced visual acuity and dark choroid (named FFM), was associated to L1940P/F553L. 12442277

2002
dbSNP: rs121909205
rs121909205
ABCA4
0.010 GeneticVariation BEFREE The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease. 9503029

1998
dbSNP: rs61750200
rs61750200
ABCA4
0.020 GeneticVariation BEFREE Compound heterozygous missense mutations were observed in patients with Stargardt disease (Arg212Cys, Argl107Cys, Gly1977Ser, Arg2107His, and le2113Met). 10458172

1999
dbSNP: rs61750200
rs61750200
ABCA4
0.020 GeneticVariation BEFREE The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease. 9503029

1998
dbSNP: rs1801466
rs1801466
ABCA4
0.030 GeneticVariation BEFREE To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1). 31618761

2019
dbSNP: rs1801466
rs1801466
ABCA4
0.030 GeneticVariation BEFREE This study demonstrates the consistency of foveal sparing, the variation in age at onset, the intrafamilial variability, and the prognosis with regard to visual acuity in p.N1868I-associated Stargardt disease. 30204727

2019
dbSNP: rs1801466
rs1801466
ABCA4
0.030 GeneticVariation BEFREE The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. 29971439

2018
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 29186038

2017
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation. 29114839

2017
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients. 27820952

2016
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation. 27367509

2016
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 25910913

2015
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526

2015
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa. 26229699

2015
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131

2015
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885

2014