Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749409
rs61749409
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.710 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999

dbSNP: rs147346345
rs147346345
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs137853006
rs137853006
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.710 GeneticVariation CLINVAR Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668

2008

dbSNP: rs977790637
rs977790637
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR

dbSNP: rs906525288
rs906525288
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853414
rs878853414
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853413
rs878853413
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853410
rs878853410
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853408
rs878853408
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853400
rs878853400
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853397
rs878853397
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853396
rs878853396
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853394
rs878853394
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853392
rs878853392
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853391
rs878853391
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853390
rs878853390
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853389
rs878853389
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs878853387
rs878853387
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853385
rs878853385
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
GC 0.700 GeneticVariation CLINVAR

dbSNP: rs878853383
rs878853383
CRX
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853382
rs878853382
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853382
rs878853382
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
G 0.700 CausalMutation CLINVAR Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 23946133

2013

dbSNP: rs878853381
rs878853381
RP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853379
rs878853379
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
T 0.700 GeneticVariation CLINVAR