Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		A 0.800 CausalMutation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664

2017
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		A 0.800 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488

2014
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		A 0.800 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285

2013
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		A 0.800 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		A 0.800 CausalMutation CLINVAR The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase. 11123914

2000
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		A 0.800 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		A 0.700 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488

2014
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		A 0.700 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285

2013
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		A 0.700 CausalMutation CLINVAR The clinical effect of homozygous ABCA4 alleles in 18 patients. 23769331

2013
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		A 0.700 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		A 0.700 CausalMutation CLINVAR The NBD2 expression plasmid was used to generate a Leu2027Phe mutation associated with Stargardt disease. 11123914

2000
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		A 0.700 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1866422
Disease: RETINITIS PIGMENTOSA 19
RETINITIS PIGMENTOSA 19 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61751408
rs61751408
ABCA4
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		A 0.700 CausalMutation CLINVAR

dbSNP: rs61751408
rs61751408
ABCA4
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		A 0.700 CausalMutation CLINVAR