Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488

2014
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662

2013
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR The clinical effect of homozygous ABCA4 alleles in 18 patients. 23769331

2013
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease. 16303926

2005
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. 12192456

2002
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935

2001
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725

2001
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998