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